Spastic Paraplegia, Optic Atrophy, and Neuropathy: New Observations, Locus Refinement, and Exclusion of Candidate Genes

SPOAN is an autosomal recessive neurodegenerative disorder which was recently characterized by our group in a large inbred Brazilian family with 25 affected individuals. This condition is clinically defined by: 1. congenital optic atrophy; 2. progressive spastic paraplegia with onset in infancy; and 3. progressive motor and sensory axonal neuropathy. Overall, we are now aware of 68 SPOAN patients (45 females and 23 males, with age ranging from 5 to 72 years), 44 of which are presented here for the first time. They were all born in the same geographic micro region. Those 68 patients belong to 43 sibships, 40 of which exhibit parental consanguinity. Sixty-one patients were fully clinically evaluated and 64 were included in the genetic investigation. All molecularly studied patients are homozygotes for D11S1889 at 11q13. This enabled us to reduce the critical region for the SPOAN gene from 4.8 to 2.3 Mb, with a maximum two point lod score of 33.2 (with marker D11S987) and of 27.0 (with marker D11S1889). Three genes located in this newly defined critical region were sequenced, but no pathogenic mutation was detected. The gene responsible for SPOAN remains elusive.

Insights on corporate sustainability and share value: an event study for Brazilian market

Em meio ao crescente volume de publicações sobre sustentabilidade e finanças, diversas pesquisas internacionais e brasileiras têm abordado a relação entre empresas classificadas como sustentáveis e o retorno de suas ações. Nesta mesma linha, este trabalho utilizou o método de estudos de eventos para verificar se entre 2005 e 2013 houve retornos anormais quando as empresas entraram e saíram do Índice de Sustentabilidade Empresarial (ISE). Além de contemplar um período mais atualizado do que seus precedentes, este estudo difere-se dos demais ao analisar o as observações individualmente e ao buscar estabelecer uma relação dos retornos anormais acumulados com as variáveis governança corporativa, tamanho, rentabilidade e alavancagem. Os resultados mostraram que embora não haja evidências conclusivas quando os casos são tomados individualmente, em conjunto eles indicam que a inclusão e a exclusão do ISE geram retornos anormais significativos, positivos e negativos respectivamente, em linha com a teoria dos stakeholders. Quanto às variáveis de controle, nenhuma apresentou relação com os retornos anormais acumulados.

Impact of skeletal maturation on bone metabolism biomarkers and bone mineral density in healthy Brazilian male adolescents

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

Sn-polymetallic greisen-type deposits associated with late-stage rapakivi granites, Brazil: fluid inclusion and stable isotope characteristics

Tin-polymetallic greisen-type deposits in the Itu Rapakivi Province and Rondonia Tin Province, Brazil are associated with late-stage rapakivi fluorine-rich peraluminous alkali-feldspar granites. These granites contain topaz and/or muscovite or zinnwaldite and have geochemical characteristics comparable to the low-P sub-type topaz-bearing granites. Stockworks and veins are common in Oriente Novo (Rondonia Tin Province) and Correas (Itu Rapakivi Province) deposits, but in the Santa Barbara deposit (Rondonia Tin Province) a preserved cupola with associated bed-like greisen is predominant. The contrasting mineralization styles reflect different depths of formation, spatial relationship to tin granites, and different wall rock/fluid proportions. The deposits contain a similar rare-metal suite that includes Sri (+/-W, +/-Ta, +/-Nb), and base-metal suite (Zn-Cu-Pb) is present only in Correas deposit. The early fluid inclusions of the Correas and Oriente Novo deposits are (1) low to moderate-salinity (0-19 wt.% NaCl eq.) CO2-bearing aqueous fluids homogenizing at 245-450 degreesC, and (2) aqueous solutions with low CO2, low to moderate salinity (0-14 wt.% NaCl eq.), which homogenize between 100 and 340 T. In the Santa Barbara deposit, the early inclusions are represented by (1) low-salinity (5-12 wt.% NaCl eq.) aqueous fluids with variable CO2 contents, homogenizing at 340 to 390 T, and (2) low-salinity (0-3 wt.% NaCl eq.) aqueous fluid inclusions, which homogenize at 320380 degreesC. Cassiterite, wolframite, columbite-tantalite, scheelite, and sulfide assemblages accompany these fluids. The late fluid in the Oriente Novo and Correas deposit was a low-salinity (0-6 wt.% NaCl eq.) CO2-free aqueous solution, which homogenizes at (100-260 degreesC) and characterizes the sulfide fluorite-sericite association in the Correas deposit. The late fluid in the Santa Barbara deposit has lower salinity (0-3 wt.% NaCl eq.) and characterizes the late-barren-quartz, muscovite and kaolinite veins. Oxygen isotope thermometry coupled with fluid inclusion data suggest hydrothermal activity at 240-450 degreesC, and 1,0-2.6 kbar fluid pressure at Correas and Oriente Novo. The hydrogen isotope composition of breccia-greisen, stockwork, and vein fluids (delta(18)O quartz from 9.9parts per thousand to 10.9parts per thousand, deltaDH(2)O from 4.13parts per thousand to 6.95parts per thousand) is consistent with a fluid that was in equilibrium with granite at temperatures from 450 to 240 degreesC. In the Santa Barbara deposit, the inferred temperatures for quartz-pods and bed-like greisens are much higher (570 and 500 degreesC, respectively), and that for the cassiterite-quartz-veins is 415 degreesC. The oxygen and hydrogen isotope composition of greisen and quartz-pods fluids (delta(18)O(qtz-H2O)=5.5-6.1parts per thousand) indicate that the fluid equilibrated with the albite granite, consistent with a magmatic origin. The values for mica (delta(18)O(mica-H2O)=33-9.8parts per thousand) suggest mixing with meteoric water. Late muscovite veins (delta(18)O(qtz-H2O)=-6.4parts per thousand) and late quartz (delta(18)O(mica-H2O)=-3.8parts per thousand) indicate involvement of a meteoric fluid. Overall, the stable isotope and fluid inclusion data imply three fluid types: (1) an early orthomagmatic fluid, which equilibrated with granite; (2) a mixed orthomagmatic-meteoric fluid; and (3) a late hydrothermal meteoric fluid. The first two were responsible for cassiterite, wolframite, and minor coluChange in the redox conditions related to mixing-of magmatic and meteoric fluids favored important sulfide mineralization in the Correas deposit. (C) 2004 Elsevier B.V. All rights reserved.

European Union and Latin America and the Caribbean: investments for growth, social inclusion and environmental sustainability

Incluye Bibliografía

Equity and exclusion in Latin America and the Caribbean: the case of indigenous and Afro-descendant peoples

Includes bibliography

Interferences and interventions after acute myocardial infarction: an integrative review of the literature

Objective: to identify the interference of acute myocardial infarction (AMI) in the quality of life of affected, interventions and understanding by health professionals. Method: an integrative review, aiming to answer << What are the interference in the quality of life of post-AMI customers? >> and << What are the interventions proposed in order to minimize them? >>. We selected 12 articles available in the LILACS database, between 2000 and 2011, based on the criteria of inclusion and exclusion. Results: we have selected a total of 12 articles selected according to the inclusion and exclusion criteria pre-established. We obtained a classification into two themes (1) interference with quality of life and (2) proposals for interventions to minimize interference. Conclusions: highlights the importance of patient involvement in care plan well structured, multidisciplinary team integration and quantity of publications by heterogeneous country on the subject.

Prevalence of Treponema Species Detected in Endodontic Infections: Systematic Review and Meta-regression Analysis

Introduction: This systematic review and meta-regression analysis aimed to calculate a combined prevalence estimate and evaluate the prevalence of different Treponema species in primary and secondary endodontic infections, including symptomatic and asymptomatic eases. Methods: The MEDLINE/PubMed, Embase, Scielo, Web of Knowledge, and Scopus data-bases were searched without starting date restriction up to and including March 2014. Only reports in English were included. The selected literature was reviewed by 2 authors and classified as suitable or not to be included in this review. Lists were compared, and, in case of disagreements, decisions were made after a discussion based on inclusion and exclusion criteria. A pooled prevalence of Treponema species in endodontic infections was estimated. Additionally, a meta-regression analysis was performed. Results: Among the 265 articles identified in the initial search, only 51 were included in the final analysis. The studies were classified into 2 different groups according to the type of endodontic infection and whether it was an exclusively primary/secondary study (n = 36) or a primary/secondary comparison (n = 15). The pooled prevalence of Treponema species was 41.5% (95% confidence interval, 35.9-47.0). In the multivariate model of meta-regression analysis, primary endodontic infections (P < .001), acute apical abscess, symptomatic apical periodontitis (P < .001), and concomitant presence of 2 or more species (P = .028) explained the heterogeneity regarding the prevalence rates of Treponema species. Conclusions: Our findings suggest that Treponema species are important pathogens involved in endodontic infections, particularly in cases of primary and acute infections.

Relation between bruxism and dental implants

OBJECTIVE: The aim of this study was to gather information and discuss the predictability of implant-supported prostheses in patients with bruxism by performing a literature review. METHODS: In order to select the studies included in this review, a detailed search was performed in PubMed and Medline databases, using the following key words: bruxism, dental implants, implant supported prosthesis, and dental restoration failure. Items that were included are: case reports, randomized controlled trials, in vitro studies, literature and systematic reviews, with or without meta-analysis, of the last 20 years that addressed the theme. Articles without abstracts, animal studies, articles in languages other than English and articles from journals unrelated to the dental field were excluded. RESULTS: after analysis according to inclusion and exclusion criteria, 28 articles were selected from a total of 54. It is known from the array of scientific articles which have assessed, either through retrospective, prospective or experimental studies, that the biomechanical and biological impact of bruxism on implant-supported prostheses is small, and that the literature has contributed little to exemplify the prosthetic limits of safety for the specialist from a clinical point of view. CONCLUSION: Although there is still no general consensus on this matter, most of the literature review articles do provide clinical guidelines that contribute to implant supported prostheses longevity and stability in patients with bruxism.

The immediate effects of local and adjacent acupuncture on the tibialis anterior muscle: a human study

Abstract Background This study compares the immediate effects of local and adjacent acupuncture on the tibialis anterior muscle and the amount of force generated or strength in Kilogram Force (KGF) evaluated by a surface electromyography. Methods The study consisted of a single blinded trial of 30 subjects assigned to two groups: local acupoint (ST36) and adjacent acupoint (SP9). Bipolar surface electrodes were placed on the tibialis anterior muscle, while a force transducer was attached to the foot of the subject and to the floor. An electromyograph (EMG) connected to a computer registered the KGF and root mean square (RMS) before and after acupuncture at maximum isometric contraction. The RMS values and surface electrodes were analyzed with Student's t-test. Results Thirty subjects were selected from a total of 56 volunteers according to specific inclusion and exclusion criteria and were assigned to one of the two groups for acupuncture. A significant decrease in the RMS values was observed in both ST36 (t = -3.80, P = 0,001) and SP9 (t = 6.24, P = 0.001) groups after acupuncture. There was a decrease in force in the ST36 group after acupuncture (t = -2.98, P = 0.006). The RMS values did not have a significant difference (t = 0.36, P = 0.71); however, there was a significant decrease in strength after acupuncture in the ST36 group compared to the SP9 group (t = 2.51, P = 0.01). No adverse events were found. Conclusion Acupuncture at the local acupoint ST36 or adjacent acupoints SP9 reduced the tibialis anterior electromyography muscle activity. However, acupuncture at SP9 did not decrease muscle strength while acupuncture at ST36 did.

Intraoral distalizer effects with conventional and skeletal Anchorage: a meta-analysis

Introduction: The aims of this meta-analysis were to quantify and to compare the amounts of distalization and anchorage loss of conventional and skeletal anchorage methods in the correction of Class II malocclusion with intraoral distalizers. Methods: The literature was searched through 5 electronic databases, and inclusion criteria were applied. Articles that presented pretreatment and posttreatment cephalometric values were preferred. Quality assessments of the studies were performed. The averages and standard deviations of molar and premolar effects were extracted from the studies to perform a meta-analysis. Results: After applying the inclusion and exclusion criteria, 40 studies were included in the systematic review. After the quality analysis, 2 articles were classified as high quality, 27 as medium quality, and 11 as low quality. For the meta-analysis, 6 studies were included, and they showed average molar distalization amounts of 3.34 mm with conventional anchorage and 5.10 mm with skeletal anchorage. The meta-analysis of premolar movement showed estimates of combined effects of 2.30 mm (mesialization) in studies with conventional anchorage and 4.01 mm (distalization) in studies with skeletal anchorage. Conclusions: There was scientific evidence that both anchorage systems are effective for distalization; however, with skeletal anchorage, there was no anchorage loss when direct anchorage was used.

Minimal and mild endometriosis negatively impact on pregnancy outcome

Endometriosis, a highly prevalent gynecological disease, can lead to infertility in moderate to severe cases. Whether minimal stages are associated with infertility is still unclear. The purpose of this systematic review is to present studies regarding the association between pregnancy rates and the presence of early stages of endometriosis. Studies regarding infertility, minimal (stage I, American Society of Reproductive Medicine [ASRM]) and mild (stage II, ASRM) endometriosis were identified by searching on the MEDLINE database from 1985 to September 2011 using the following MESH terms: endometriosis; infertility; minimal; mild endometriosis; pregnancy rate. 1188 articles published between January of 1985 and November of 2011 were retrieved; based on their titles, 1038 citations were excluded. Finally, after inclusion and exclusion criteria, 16 articles were selected to be part of this systematic review. Several reasons have been discussed in the literature to explain the impact of minimal endometriosis on fertility outcome, such as: ovulatory dysfunction, impaired folliculogenesis, defective implantation, decrease embryo quality, abnormal immunological peritoneal environment, and luteal phase problems. Despite the controversy involving the topic, the largest randomized control trial, published by Marcoux et al. in 1997 found a statistically different pregnancy rate after resection of superficial endometrial lesions. Earlier stages of endometriosis play a critical role in infertility, and most likely negatively impact pregnancy outcomes. Further studies into stage I endometriosis, especially randomized controlled trials, still need to be conducted.

Pain in preterm infants: effects of sex, gestational age, and neonatal illness severity

Neonates hospitalized in a neonatal intensive care unit are exposed to many painful and stressful procedures. Biobehavioral pain reactivity in preterm infants during the neonatal period may reflect the capacity of the central nervous system to regulate arousal and neurobiological organization. We review empirical studies on the effects of sex, gestational age, and neonatal illness severity on pain reactivity in children born preterm. A literature search was conducted using PubMed, Institute of Scientific Information Web of Science, PsycINFO, Latin American and Caribbean Health Sciences Literature, and Scientific Electronic Library Online databases. Additionally, a special search was performed in online journals that publish pain studies including Pain, Early Human Development, European Journal of Pain, and Pain Management Nursing. The literature search covered the period from 2004 to 2009. Data were extracted according to predefined inclusion and exclusion criteria. Of the 18 studies reviewed, 16 analyzed gestational age, 13 examined neonatal illness severity, and eight focused on sex. Most of the studies analyzed more than one of these three variables. The majority of the studies found effects of gestational age (n = 14) and neonatal illness severity (n = 11) on pain responses. Only two studies found an influence of sex on infant pain responses. In conclusion, gestational age and neonatal illness severity influence pain responses in infants born preterm. Further studies should be conducted to examine the influence of sex on pain responses.

Oral lichen planus and malignant transformation: a retrospective follow-up study of clinical and histopathologic data

OBJECTIVE: Patients in the stomatology service of the Department of Oral Surgery and Stomatology who were clinically and histopathologically diagnosed with oral lichen planus (OLP) in the years 1995 to 2001 were examined for a possible malignant transformation of a previously biopsied OLP site. METHOD AND MATERIALS: For the 145 patients included, the recordings were searched for initial localization and type of OLP lesion, potential noxious agents, distribution between symptomatic and asymptomatic OLP types, and for a malignant transformation of a known OLP site during the follow-up period up to December 2003. RESULTS: The group comprised 47 men and 98 women with a mean age of 56.3 years. Of the 497 lesions, almost half were classified as reticular or papular, predominantly located on the buccal mucosa, gingiva, and borders of the tongue. Four patients did not adhere to their scheduled control visits and were dropped from the study. During the follow-up period 4 patients developed malignant transformation of OLP. In 3 of these cases, dysplasia was present at the initial diagnosis of OLP. This results in a malignant transformation rate of 2.84% among the remaining 141 patients; if the 3 patients with initial dysplasia are excluded, the rate drops to 0.71%. CONCLUSIONS: Until further knowledge is derived from large prospective studies, the data supporting or negating a potential malignant character of OLP lesions remains inconclusive. Special emphasis has to be directed toward unified inclusion and exclusion criteria regarding clinical and histologic findings and identifiable risk factors to allow the comparison of different studies.