Abnormal methylation at the KvDMR1 imprinting control region in clinically normal children conceived by assisted reproductive technologies

Genomic imprinting alterations have been shown to be associated with assisted reproductive technologies (ARTs) in animals. At present, data obtained in humans are inconclusive; however, some epidemiological studies have demonstrated an increased incidence of imprinting disorders in children conceived by ARTs. In the present study, we focused on the effect of ARTs [IVF and intracytoplasmic sperm injection (ICSI)] on the epigenetic reprogramming of the maternally methylated imprinting control region KvDMR1 in clinically normal children. Qualitative and quantitative methylation at KvDMR1 were assessed by the methylation-specific PCR approach and by the methylation-sensitive enzymatic digestion associated with real-time PCR method, respectively. DNA was obtained from peripheral blood of 12/18 and umbilical cord blood and placenta of 6/18 children conceived by IVF or ICSI. The methylation patterns observed in this group were compared with the patterns observed in 30 clinically normal naturally conceived children (negative controls) and in 3 naturally conceived Beckwith-Wiedemann syndrome patients (positive controls). Hypomethylation at KvDMR1 was observed in 3/18 clinically normal children conceived by ARTs (2 conceived by IVF and 1 by ICSI). A discordant methylation pattern was observed in the three corresponding dizygotic twins. Our findings corroborate the hypothesis of vulnerability of maternal imprinting to ARTs. Furthermore, the discordant methylation at KvDMR1 observed between dizygotic twins could be consequent to one of the following possibilities: (i) a differential vulnerability of maternal imprints among different embryos; or (ii) epimutations that occurred during gametogenesis resulting in the production of oocytes without the correct primary imprint at KvDMR1.

Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome

Silver-Russell syndrome (SRS) is characterized by severe intrauterine and postnatal growth retardation in association with a typical small triangular face and other variable features. Genetic and epigenetic disturbances are detected in about 50% of the patients. Most frequently, SRS is caused by altered gene expression on chromosome 11p15 due to hypomethylation of the telomeric imprinting center (ICR1) that is present in at least 40% of the patients. Maternally inherited duplications encompassing ICR1 and ICR2 domains at 11p15 were found in a few patients, and a microduplication restricted to ICR2 was described in a single SRS child. We report on a microduplication of the ICR2 domain encompassing the KCNQ1, KCNQ1OT1, and CDKN1C genes in a three-generation family: there were four instances of paternal transmissions of the microduplication from a single male uniformly resulting in normal offspring, and five maternal transmissions, via two clinically normal sisters, with all the children exhibiting SRS. This report provides confirmatory evidence that a microduplication restricted to the ICR2 domain results in SRS when maternally transmitted. (C) 2011 Wiley-Liss, Inc.

Sorption aspects for unconsolidated materials of the Sao Carlos region (SP), Brazil

The transport of liquid and gaseous pollutants through porous geological media depends on the physical and chemical characteristics of the unconsolidated material, rocks and water associated with the characteristics of the pollutants. Of these characteristics, the sorption aspect is of fundamental importance and is a function of the mineral proportions, pH, Eh and void aspects encountered in the porous media. In the Sao Carlos region, located in the eastern-central part of the 9 ate of Sao Paulo, Brazil, there are basically two types of unconsolidated materials: the first is a residual from sandstones cemented with fines and the secondarily composed of claystones, siltstones and conglomerates from the Cretaceous Period that constitute the Itaqueri Formation; the second is a sandy sediment of the Tertiary Period. These geological conditions are found in areas where chemical products are disposed of characterized as either diffuse or point pollutions sources. Because of this situation, a study was developed to evaluate the sorption aspects of some inorganic cations that are frequently found in these sources, in varied concentrations. Taken into consideration were their physical/chemical properties, such as: specific weight, grain size, mineralogy, cationic exchange capacity, pH, hydraulic conductivity. Batch tests were run using solutions of KCl, ZnCl(2) and CuCl center dot H(2)O at three different pH values, and then with a combined solution (KCl + ZnCl(2) + CuCl center dot H(2)O), also at three different pH values.

Management of brachial plexus region tumours and tumour-like conditions: relevant diagnostic and surgical features in a consecutive series of eighteen patients

Tumours of the brachial plexus region are rare and most publications are case reports or studies with a small series of patients. The aim of this study is to present our experience in managing these lesions. We review 18 patients with tumours in the brachial plexus region submitted to surgical treatment in a 6 year period, including their clinical presentation, neuro-imaging data, surgical findings and outcome. The tumours comprised a heterogeneous group of lesions, including schwannomas, neurofibromas, malignant peripheral nerve sheath tumour (MPNST), sarcomas, metastases, desmoids and an aneurysmal bone cyst. The most common presentation was an expanding lump (83.33%). Eleven tumours were benign and 7 were malignant. Neurofibromatosis was present in only 2 patients (11.11%). Gross total resection was achieved in 14 patients and sub-total resection in the others. Only 3 patients presented with new post-operative motor deficits. The incidence of complications was low (16.5 %). The majority of tumours were benign and most of them could be excised with a low incidence of additional deficits. Some of the malignant tumours could be controlled by surgery plus adjuvant therapy, but this category is still associated with high morbidity and mortality rates.

Prevalence of, and risk factors for Kaposi`s sarcoma-associated herpesvirus infection among blood donors in Brazil: A multi-center serosurvey

Kaposi`s sarcoma-associated herpesvirus (KSHV) is endemic in the Amazon and rare in southern regions of Brazil. However, geographical distribution and epidemiological correlates of infection in this large country are still poorly defined. To estimate the seroprevalence of, and risk factors for, KSHV infection in Brazil, a multi-center study was conducted among 3,493 first-time voluntary unpaid blood donors from Salvador, Sao Paulo and Manaus. Antibodies against KSHV were detected using a whole-virus ELISA validated prior to the serosurvey. Antibodies against the latency-associated nuclear antigen (LANA) were detected by immuno-fluorescence assay (IFA) among ELISA-positive sera and a random sample of ELISA-negative sera. Overall, seroprevalence of KSHV by whole-virus ELISA was 21.7% (95% confidence interval (Cl): 20-23.4%) in men and 31.7% (95% Cl: 29-34.3%) in women (P<0.0001). KSHV antibodies were detected by IFA-LANA in 3% (95% Cl: 2-4.3%) of 867 ELISA-positive samples and in none of 365 randomly selected ELISA-negative samples. In multivariate analysis, KSHV seroprevalence by whole-virus ELISA was independently associated with female sex (odds ratio [OR] = 1.6, 95% Cl: 1.4-1.9); residence in the Amazon (OR = 1.4, 95% Cl: 1.2-1.8; compared to Salvador); Caucasian ethnicity (OR = 1.3, 95% Cl: 1.1-1.6) and herpes simplex virus type 2 (HSV-2) infection (OR = 1.3, 95% Cl: 1.1-1.6). KSHV seroprevalence did not significantly increase with age, nor was it associated with self-reported sexual behavior. KSHV seroprevalence is high among Brazilian blood donors, particularly from the Amazon region. This study supports the co-existence of sexual and non-sexual routes of KSHV transmission in this population.

The implications of microsurgical anatomy for surgical approaches to the sellar region

The knowledge of the normal anatomy and variations regarding the management of tumors of the sellar region is paramount to perform safe surgical procedures. The sellar region is located in the center of the middle cranial fossa; it contains complex anatomical structures, and is the site of various pathological processes: tumor, vascular, developmental, and neuroendocrine. We review the microsurgical anatomy (microscopic and endoscopic) of this region and discuss the surgical nuances regarding this topic, based on anatomical concepts.

Regeneration of the Corneal Epithelium after Debridement of its Central Region: An Autoradiographic Study on Rabbits

Purpose: To investigate the proliferative behavior of the corneal and limbal epithelia after debridement on the central region of the rabbit cornea. Methods: After scraping a circular epithelial area, 5 mm in diameter, in the center of the cornea, (3)H-thymidine ((3)H-TdR) was injected intravitreally, and the rabbits killed from 1 to 49 days afterward. The cornea, together with the adjacent conjunctiva, was processed for autoradiography. Results: The regenerating epithelium at the center of the cornea exhibited high frequencies of labeled nuclei when compared to controls. The mitotic indexes for the limbus were comparable in experimental and control eyes. The unique basal stratum of the limbal epithelium exhibited quick proliferation and vertical migration in all eyes. Cells that remained labeled for four weeks or more were observed throughout the corneal epithelium, including its basal stratum, and this did not depend on epithelial damage. Conclusion: Corneal epithelium wounds are healed by sliding and proliferation of cells surrounding the epithelial gap without any evidence for the participation of the limbal epithelium. Daughter cells labeled with (3)H-TdR were visualized in all layers of the corneal epithelium up to 7 weeks after the DNA precursor injection. However, at this long interval, the only labeled cells in the limbus were in the suprabasal layers.

Center of mass energy and system-size dependence of photon production at forward rapidity at RHIC

We present the multiplicity and pseudorapidity distributions of photons produced in Au + Au and Cu + Cu collisions at root(s)NN = 62.4 and 200 GeV. The photons are measured in the region -3.7 < eta < -2.3 using the photon Multiplicity detector in the STAR experiment at RHIC. The number of photons produced per average number of participating nucleon pairs increases with the beam energy and is independent of (lie collision centrality. For collisions with similar average numbers of participating nucleons the photon multiplicities are observed to be similar for An + Au and Cu + Cu collisions at a given beam energy. The ratios of the number of charged particles to photons in the measured pseudorapidity range are found to be 1.4 +/- 0.1 and 1.2 +/- 0.1 for root(s)NN = 62.4 and 200 GeV, respectively. The energy dependence of this ratio could reflect varying contributions from baryons to charged particles, while mesons are the dominant contributors to photon production in the given kinematic region. The photon pseudorapidity distributions normalized by average number of participating nucleon pairs, when plotted as a function of eta-Y(beam), are found to follow a longitudinal scaling independent of centrality and colliding ion species at both beam energies. (C) 2009 Elsevier B.V. All rights reserved.

Fine needle aspiration biopsy in the oral cavity and head and neck region

The objective of the current study was to evaluate the sensitivity, specificity and accuracy of fine needle aspiration biopsy (FNAB) of submucous nodules from the oral cavity and head and neck region as an auxiliary diagnostic tool. Fifty patients with nodule lesions in the oral cavity and the head and neck region were selected. All of them were submitted to FNAB and to either incisional or excisional biopsy. The diagnoses from the FNABs were compared with the biopsy diagnosis as the gold standard. All the cases of FNAB were analyzed by a single oral pathologist prior to the biopsy diagnosis. The results showed that the sensitivity of FNAB was 75%, its specificity was 96% and its accuracy was 58.8%. The false positive and false negative rates were 6.7% and 13.3%, respectively. The positive predictive value was 86% and the negative predictive value was 93%. The inconclusive rate was 16/50. FNAB displayed a high success rate for identifying both malignant and benign lesions, but a low accuracy for making a final diagnosis.

Juvenile idiopathic arthritis with involvement of the temporomandibular joint: the role of image examinations

PURPOSE: Juvenile idiopathic arthritis (JIA) has unknown etiology, and the involvement of the temporomandibular joint (TMJ) is rare in the early phase of the disease. The present article describes the use of computed tomography (CT) and magnetic resonance (MRI) images for the diagnosis of affected TMJ in JIA. CASE DESCRIPTION: A 12-year-old, female, Caucasian patient, with systemic rheumathoid arthritis and involvement of multiple joints was referred to the Imaging Center for TMJ assessment. The patient reported TMJ pain and limited opening of the mouth. The helical CT examination of the TMJ region showed asymmetric mandibular condyles, erosion of the right condyle and osteophyte-like formation. The MRI examination showed erosion of the right mandibular condyle, osteophytes, displacement without reduction and disruption of the articular disc. CONCLUSION: The disorders of the TMJ as a consequence of JIA must be carefully assessed by modern imaging methods such as CT and MRI. CT is very useful for the evaluation of discrete bone changes, which are not identified by conventional radiographs in the early phase of JIA. MRI allows the evaluation of soft tissues, the identification of acute articular inflammation and the differentiation between pannus and synovial hypertrophy.

Detection of Brucella ovis in ovine from Paraíba State, in the Northeast region of Brazil

To determine the presence of Brucella ovis in ovine from Paraíba State, in the Northeast region of Brazil, 80 animals slaughtered in the public slaughterhouse of Patos city were used. Before slaughter, blood samples were collected by jugular venopuncture from each animal, and after slaughter, testicles, epidydimus and uterus were aseptically collected. For the serological diagnosis of B. ovis and B. abortus infections, the agar gel immunodiffusion (AGID) and Rose Bengal (RBT) tests were carried out, respectively. In addition, microbiological culture and polymerase chain reaction (PCR) were performed on testicle, epidydimus and uterus samples. Six animals (7.5%) tested positive for the presence of B. ovis antibodies and all animals tested negative for the presence of B. abortus antibodies. One AGID-positive animal tested positive at uterine swab culture. PCR was able to amplify DNA of Brucella spp. from the pool of testicle, epidydimus and uterus samples from AGID-positive animals. This is the first report of isolation and detection of B. ovis DNA by PCR in ovine from the Northeast region of Brazil.

Propagacão das ondas de rossby nos invernos de máxima freqüência de ocorrência de geadas na pampa úmida

Neste trabalho estudou-se a influência dos padrões de onda extratropicais, que favorecem o desenvolvimento de eventos extremos frios no sudeste Sul-Americano, e em particular na região conhecida como Pampa Úmida. O aquecimento anômalo observado na região do oceano Pacífico tropical ocidental a nordeste da Austrália, durante os invernos de máxima freqüência de ocorrência de Geadas Generalizadas (GG) no centro-leste da Argentina, (região conhecida como Pampa Úmida - PU), atua como disparador de ondas de Rossby, as quais se propagam até o continente, favorecendo assim a ocorrência daqueles eventos. O padrão de propagação obtido nas simulações numéricas com um modelo baroclínico global, mostra o predomínio de um número de onda 3. Adicionalmente, foram analisadas as correlações do vento meridional em altos e baixos níveis observados para os eventos de GG, selecionados dentro dos invernos de máxima freqüência de ocorrência desses eventos. O vento meridional global em 250hPa apresenta regiões com correlação estatisticamente significativa com o vento meridional médio na PU. A configuração obtida no caso do vento meridional global em 250hPa, correlacionado com o vento meridional na PU, pode estar associada ao padrão de propagação das ondas simuladas numericamente a partir da forçante tropical. Igualmente importantes e significativos são os valores de correlação do vento sul nos baixos níveis, em particular para toda região da PU. O padrão de ondas simulado está bem representado pelas significativas correlações entre o vento meridional hemisférico em altos níveis e a temperatura no dia de evento de GG.

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry

Association studies between ADIPOR1 genetic variants and predisposition to type 2 diabetes (DM2) have provided contradictory results. We determined if two single nucleotide polymorphisms (SNP c.-8503G>A and SNP c.10225C>G) in regulatory regions of ADIPOR1 in 567 Brazilian individuals of European (EA; N = 443) or African (AfA; N = 124) ancestry from rural (quilombo remnants; N = 439) and urban (N = 567) areas. We detected a significant effect of ethnicity on the distribution of the allelic frequencies of both SNPs in these populations (EA: -8503A = 0.27; AfA: -8503A = 0.16; P = 0.001 and EA: 10225G = 0.35; AfA: 10225G = 0.51; P < 0.001). Neither of the polymorphisms were associated with DM2 in the case-control study in EA (SNP c.-8503G>A: DM2 group -8503A = 0.26; control group -8503A = 0.30; P = 0.14/SNP 10225C>G: DM2 group 10225G = 0.37; control group 10225G = 0.32; P = 0.40) and AfA populations (SNP c.-8503G>A: DM2 group -8503A = 0.16; control group -8503A = 0.15; P = 0.34/SNP 10225C>G: DM2 group 10225G = 0.51; control group 10225G = 0.52; P = 0.50). Similarly, none of the polymorphisms were associated with metabolic/anthropometric risk factors for DM2 in any of the three populations, except for HDL cholesterol, which was significantly higher in AfA heterozygotes (GC = 53.75 ± 17.26 mg/dL) than in homozygotes. We conclude that ADIPOR1 polymorphisms are unlikely to be major risk factors for DM2 or for metabolic/anthropometric measurements that represent risk factors for DM2 in populations of European and African ancestries.

A new species of the genus Pimelerodius Vanin from the Amazon Region, with notes on the geografic distribution of Pimelerodius motacilla (Boheman) (Coleoptera, Curculionidae, Otidocephalini)

Pimelerodius punctiventris sp. nov. (type locality Brazil, Amazonas, Itacoatiara) is described and illustrated. The new taxon is compared with similar species, being distinguished from the other 12 known species of the genus by the presence of punctures in ventrite I. The available published key for identification of species of Pimelerodius is adapted to include the new species. A modification of the generic description of the aedeagus of Pimelerodius is provided, a necessity due to the differences observed in the aedeagus of the new species. The occurrence of P. motacilla (Boheman, 1843) in the Amazon Region, recorded in sympatry with P. punctiventris in Itacoatiara, AM, is discussed and confirmed, based on the study of 41 available specimens.

On the first tachinid fly (Diptera, Tachinidae) carrying Asclepiadoideae pollinaria in the Neotropical Region

On the first tachinid fly (Diptera, Tachinidae) carrying Asclepiadoideae pollinaria in the Neotropical Region. This paper reports the first Neotropical Tachinidae species possibly associated to pollination of Asclepiadoideae: a female of Euacaulona sumichrasti Townsend, 1908 (Diptera, Tachinidae, Phasiinae, Trichopodini) carrying pollinaria of Gonolobus parviflorus Decne., 1844 (Apocynaceae, Asclepiadoideae, Asclepiadeae: Gonolobinae) attached to its proboscis. The fly specimen was collected in Paraguay, Departamento Canindeyú. The pollinarium is illustrated and described herein. This represents the first anthophilous record to G. parviflorus and to the genus.