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Otofaciocervical syndrome is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies, and mild intellectual disability. Autosomal dominant cases are caused by deletions or point mutations of EYA1. A single family with an autosomal recessive form of otofaciocervical syndrome and a homozygous missense mutation in PAX1 gene has been described. We report whole exome sequencing of 4 members of a consanguineous family in which two children, showing features of otofaciocervical syndrome, expired from severe combined immunodeficiency. To date, the co-occurrence of otofaciocervical syndrome and severe combined immunodeficiency has never been reported. We found a nonsense homozygous mutation in PAX1 gene in the two affected children. In mice, Pax1 is required for the formation of specific skeletal structures as well as for the development of a fully functional thymus. The mouse model strongly supports the hypothesis that PAX1 depletion in our patients caused thymus aplasia responsible for severe combined immunodeficiency. This report provides evidence that bi-allelic null PAX1 mutations may lead to a multi-system autosomal recessive disorders, where severe combined immunodeficiency might represent the main feature.

This study aimed to answer these questions: (i) Can the temporal patterns of locomotor and exploratory activities and anxiety-like behavior be disrupted by a single session of stress? (ii) Can the ...

The aim of this study was to value the prevalence of enteropathogenic Vibrio spp. in fish products, collected in the last two years. A total of 100 samples (75 bivalve molluscs, 6 shrimps, 12 teleosts and 7 cephalopods) were analysed according to the ISO 21872-1:2017. Vibrio strains were characterised by molecular analysis (PCR). Enteropathogenic Vibrio spp were isolated in the 11% of fish products, particularly in shellfish. V. parahaemolyticus was identified in 4/75 (5.3%) and in 2/12 (16.7%) samples of bivalve molluscs from production areas and teleosts respectively. The isolates of V. parahaemolyticus were tested by PCR for the presence of specie- specific gene (toxR) and for the tdh and trh genes: 1 sample of teleosts (Sardina pilchardus) had the trh gene. V. vulnificus was isolated in 5/75 (6.7%) samples of bivalve molluscs (only in oysters). This is the first report of V. vulnificus identification in bivalve molluscs in our area.

Os osteomas geralmente são lesões solitárias, de crescimento lento e assintomáticas. Os locais de ocorrência mais comuns são o corpo da mandíbula e o côndilo, mas quando envolvem esta região podem causar alterações na oclusão do paciente, desvio progressivo e lento de linha média, assim como aumento do volume facial acompanhado de dor e limitação de abertura bucal. Cerca de 90% dos pacientes portadores da Síndrome de Gardner apresentam anormalidades esqueléticas, fazendo os osteomas as lesões mais frequentes e de maior ocorrência em seios paranasais e nos maxilares. O objetivo deste trabalho é relatar o caso clínico de uma paciente do gênero feminino, portadora de Síndrome de Gardner com osteoma localizado em côndilo mandibular esquerdo que, devido aos sintomas relatados pelo paciente, foi submetida à ressecção cirúrgica por meio de acesso intra oral para melhor abordagem da lesão e que evoluiu para a solução da sintomatologia apresentada como queixa principal quando procurou o serviço de Cirurgia e Traumatologia Buco-maxilo-facial.

Os osteomas geralmente são lesões solitárias, de crescimento lento e assintomáticas. Os locais de ocorrência mais comuns são o corpo da mandÃbula e o côndilo, mas quando envolvem esta região podem causar alterações na oclusão do paciente, desvio progressivo e lento de linha média, assim como aumento do volume facial acompanhado de dor e limitação de abertura bucal. Cerca de 90% dos pacientes portadores da SÃndrome de Gardner apresentam anormalidades esqueléticas, fazendo os osteomas as lesões mais frequentes e de maior ocorrência em seios paranasais e nos maxilares. O objetivo deste trabalho é relatar o caso clÃnico de uma paciente do gênero feminino, portadora de SÃndrome de Gardner com osteoma localizado em côndilo mandibular esquerdo que, devido aos sintomas relatados pelo paciente, foi submetida à ressecção cirúrgica por meio de acesso intra oral para melhor abordagem da lesão e que evoluiu para a solução da sintomatologia apresentada como queixa principal quando procurou o serviço de Cirurgia e Traumatologia Buco-maxilo-facial. Osteomas are usually solitary, slow-growing and asymptomatics lesions. The most common sites of occurrence are condyle and jaw body. Osteomas involving condyle can cause changes in patient’s occlusion, progressive and slow deviation of the midline, as well as increased facial volume accompanied by pain and limited mouth opening. An osteoma located in mandible border is typical of the Gardner’s Syndrome. There are many clinical features of this syndrome, which can affect the skin, endocrine system and orofacial area. About 90% of patients with this condition have skeletal abnormalities, making osteomas the most frequent lesions in the paranasal sinuses and jaws. The objective of this work is to report the clinical case of a female patient with Gardner’s Syndrome with osteoma located in the left mandibular condyle, who was submitted to resection of the lesion.

Submitted by DSpace Unilasalle (dspace@unilasalle.edu.br) on 2021-08-02T19:33:06Z No. of bitstreams: 1 emmcallai.etal.pdf: 723610 bytes, checksum: 5648f7e0feb38c625b2dbd954500028c (MD5) Made available in DSpace on 2021-08-02T19:33:06Z (GMT). No. of bitstreams: 1 emmcallai.etal.pdf: 723610 bytes, checksum: 5648f7e0feb38c625b2dbd954500028c (MD5) Previous issue date: 2019 Objective Our objective was to evaluate the Transcranial direct current stimulation (tDCS) effect on facial allodynia induced by chronic constriction of the infraorbital nerve (CCI-ION) and on the brainstem levels of TNF-α, NGF, IL-10, and serum LDH in rats. Methods Rats were exposed to the CCI-ION model. Facial allodynia was assessed by von Frey filaments test at baseline, 3, 7, 10, and 14 days postsurgery and 24 hr and 7 days after the bimodal tDCS sessions for 20 min/day/8 days. Results Chronic constriction of the infraorbital nerve induced a significant decrease in the mechanical threshold 14 days after surgery. This effect was reversed by tDCS treatment, with the mechanical threshold returning to basal levels at 24 hr after the end of the treatment and it persisted for 7 days after the end of the treatment. tDCS also decreased LDH serum levels compared to those in the control group. There was an interaction between pain and treatment with respect to brainstem levels of NGF, TNF-α, and IL-10. Conclusion Chronic constriction of the infraorbital nerve model was effective in establishing trigeminal neuropathic pain on 14 days after surgery, and tDCS reduced allodynia and LDH serum levels and promoted alterations in NGF, TNF-α, and IL-10 brainstem levels. Thus, we suggest that tDCS may be a potential therapy in the trigeminal pain treatment.

Submitted by tgoncalv@stj.jus.br (tgoncalv@stj.jus.br) on 2020-03-05T14:37:58Z No. of bitstreams: 2 possibilidade_indenizacao_danos_giotti.pdf: 6890773 bytes, checksum: 5f2ff9e4b05beaff79a0dd248c04fd50 (MD5) license.txt: 1239 bytes, checksum: c9b4c351324448672315a00808efb725 (MD5) Approved for entry into archive by Roberta Marins (rmarins@stj.jus.br) on 2020-03-09T20:54:03Z (GMT) No. of bitstreams: 2 license.txt: 1239 bytes, checksum: c9b4c351324448672315a00808efb725 (MD5) possibilidade_indenizacao_danos_giotti.pdf: 6890773 bytes, checksum: 5f2ff9e4b05beaff79a0dd248c04fd50 (MD5) Made available in DSpace on 2020-03-09T20:54:03Z (GMT). No. of bitstreams: 2 license.txt: 1239 bytes, checksum: c9b4c351324448672315a00808efb725 (MD5) possibilidade_indenizacao_danos_giotti.pdf: 6890773 bytes, checksum: 5f2ff9e4b05beaff79a0dd248c04fd50 (MD5) Previous issue date: 2019

Introdução: dor crônica representa um problema de saúde pública que acomete a qualidade de vida dos indivíduos e despende alto custo socioeconômico. E, as terapias farmacológicas, atualmente disponíveis, ainda resultam no uso descontinuado devido seus efeitos colaterais ou alívio inadequado da dor. Desta forma, a busca por novas modalidades de tratamento que permitam uma melhor abordagem terapêutica dos quadros dor, com menos efeitos adversos e baixo custo torna-se de fundamental importância, sobretudo nas condições crônicas. Neste contexto, o uso de agonistas seletivos de receptor adenosinérgico A3 (A3AR) parece representar uma opção terapêutica viável para o tratamento da dor crônica de diferentes etiologias. Objetivo: contudo, o objetivo deste trabalho foi investigar o efeito antinociceptivo de tratamento agudo com agonista A3AR (IB-MECA) em modelo animal de dor crônica inflamatória ou dor crônica neuropática, por meio de respostas comportamentais nociceptivas. Adicionalmente, correlacionar este efeito com níveis centrais de neurotrofinas e citocinas. Metodologia: este estudo experimental foi desenvolvido na Unidade de Experimentação Animal do Hospital de Clínicas de Porto Alegre (sob CEUA n° 2015-0530, 2018-0377), e foram utilizado ratos Wistar adultos (50-60 dias), em condições ideais de biotério. Os ratos foram randomizados por peso corporal (g) em diferentes grupos dentro de cada modelo de dor (controle, controle+veículo, controle+droga padrão, controle+IB-MECA, dor, dor+veículo, dor+ droga padrão, dor+IB-MECA). Testes nociceptivos realizados foram: placa quente, von frey e Randal Selitto. Medias bioquímicas foram: níveis centrais de citocinas (interleucinas 1β e 10) neurotrofinas (fator neurotróficos derivado do encéfalo- BDNF e fator de crescimento neuronal –NGF) por técnica de ELISA. 1° protocolo experimental: modelo de dor crônica inflamatória por meio de injeção na pata traseira de Adjuvante Completo de Freund (CFA,100μL). 2° protocolo experimental: modelo de dor crônica neuropática por meio da constrição crônica do isquiático. Dados foram analisados pelo SPSS versão 20.0 e P

Instrumento que se destina procedimentos cirúrgicos de desvio do septo nasal e sinusite. Partiu da mandíbula do cupim da espécie Neocapriterme Braziliense. O instrumento foi desenvolvido a partir da biomimética procura nos sistemas naturais alternativas para mecanismos que atendam requisitos técnicos, estruturais, mecânicos ou quanto a forma.

Busca-se estudar o fenômeno do planejamento tributário, principal aliado dos empresários do século XXI. Tem como objetivo geral demonstrar como um planejamento tributário feito em conformidade com a lei pode ser um instrumento eficaz de competitividade empresarial, na medida em que gera economia tributária ao empresário. Por tratar-se de um artigo científico buscará utilizará como metodologia o levantamento bibliográfico e a análise de dados qualitativos.

Anxiety disorders cause distress and are commonly found to be comorbid with chronic pain. Both are difficult-to-treat conditions for which alternative treatment options are being pursued. This study aimed to evaluate the effects of transcranial direct current stimulation (tDCS), treadmill exercise, or both, on anxiety-like behavior and associated growth factors and inflammatory markers in the hippocampus and sciatic nerve of rats with neuropathic pain. Male Wistar rats (n = 216) were subjected to sham-surgery or sciatic nerve constriction for pain induction. Fourteen days following neuropathic pain establishment, either bimodal tDCS, treadmill exercise, or a combination of both was used for 20 min a day for 8 consecutive days. The elevated plus-maze test was used to assess anxiety-like behavior and locomotor activity during the early (24 h) or late (7 days) phase after the end of treatment. BDNF, TNF-ɑ, and IL-10 levels in the hippocampus, and BDNF, NGF, and IL-10 levels in the sciatic nerve were assessed 48 h or 7 days after the end of treatment. Rats from the pain groups developed an anxiety-like state. Both tDCS and treadmill exercise provided ethological and neurochemical alterations induced by pain in the early and/or late phase, and a modest synergic effect between tDCS and exercise was observed. These results indicate that non-invasive neuromodulatory approaches can attenuate both anxiety-like status and locomotor activity and alter the biochemical profile in the hippocampus and sciatic nerve of rats with neuropathic pain and that combined interventions may be considered as a treatment option.

Melatonin is a neuroendocrine hormone that presents a wide range of physiological functions including regulating circadian rhythms and sleep, enhancing immune function, sleep improvement, and antioxidant effects. In addition, melatonin has received special attention in pain treatment since it is effective and presents few adverse effects. In this study, we evaluated the effect of acute dose of melatonin upon hyperalgesia induced by complete Freund's adjuvant in a chronic orofacial pain model in Sprague-Dawley rats. Nociceptive behavior was assessed by facial Von Frey and the hot plate tests at baseline and thereafter 30, 60, and 120 min, 24 h, and 7 days after melatonin treatment. We demonstrated that acute melatonin administration alters mechanical and thermal hyperalgesia induced by an orofacial pain model (TMD), highlighting that the melatonin effect upon mechanical hyperalgesia remained until 7 days after its administration. Besides, we observed specific tissue profiles of neuroimmunomodulators linked to pain conditions and/or melatonin effect (brain-derived neurotrophic factor, nerve growth factor, and interleukins 6 and 10) in the brainstem levels, and its effects were state-dependent of the baseline of these animals.

Background Neuropathic pain (NP) is caused by an insult or dysfunction in the peripheral or central nervous system (CNS), the main symptoms being mechanical allodynia and hyperalgesia. NP often shows insufficient response to classic analgesics and its management remains a challenge. Transcranial direct current stimulation (tDCS) is a non-invasive method of cerebral stimulation and represents a promising resource for pain management. Objective/hypothesis We investigated the effects of tDCS on the nociceptive response and on IL-1β, IL-10, and TNF-α levels in CNS structures of rats with NP. Methods After induction of NP by chronic constriction injury (CCI) of the sciatic nerve, the rats received 20 min of bicephalic tDCS for 8 days. Hyperalgesia was assessed by the hot plate and von Frey tests and evaluated at baseline, 7 days, and 14 days after CCI surgery, and also immediately, 24 hours, and 7 days following tDCS treatment. The levels of IL-1β, IL-10 and TNF-α in the cortex, spinal cord, and brainstem were determined by ELISA at 48 hours and 7 days post-tDCS. Results The CCI model provoked thermal and mechanical hyperalgesia until at least 30 days post-CCI; however, bicephalic tDCS relieved the nociceptive behavior for up to 7 days after treatment completion. Conclusions Bicephalic tDCS is effective to promote antinociceptive behavior in neuropathic pain, which can be reflected by a spinal neuroimmunomodulation linked to pro- and anti-inflammatory cytokine levels observed in the long-term.

This study aimed to evaluate the oral health-related quality of life (OHRQoL) and associated factors in the elderly. A cross-sectional study was conducted with 287 elderly of Cruz Alta, Brazil. The following variables were collected: age, sex, ethnicity, level of education, marital status, retirement, medical/dental history, smoking/alcohol exposure, oral hygiene habits, use and need of dental prosthesis, missing teeth, temporomandibular disorder symptoms (TMD), nutritional status, and halitosis. OHRQoL was assessed by Oral Health Impact Profile-14 (OHIP-14). The sample was categorized into low impact (sum scores ≤6) and high impact (sum scores ≥7). Associations were analyzed by Poisson regression with robust variation. Mean scores of OHIP-14 was 5.92±8.54. Divorced individuals and those who did not use dental floss presented 77% and 54%, respectively, higher prevalence ratio (PR) of having higher OHRQoL impact. Elderly that did not need dental prosthesis demonstrated a lower impact on OHRQoL (P

The set of proteins required for mitotic division remains poorly characterised. Here, an extensive series of correlation analyses of human and mouse transcriptomics data was performed to identify genes strongly and reproducibly associated with cells undergoing S/G2-M phases of the cell cycle. In so doing, a list of 701 cell cycle-associated genes was defined and shown that whilst many are only expressed during these phases, the expression of others is also driven by alternative promoters. Of this list, 496 genes have known cell cycle functions, whereas 205 were assigned as putative cell cycle genes, 53 of which are functionally uncharacterised. Among these, 27 were screened for subcellular localisation revealing many to be nuclear localised and at least four to be novel centrosomal proteins. Furthermore, 10 others inhibited cell proliferation upon siRNA knockdown. This study presents the first comprehensive list of human cell cycle proteins, identifying many new candidate proteins.

Objective Our objective was to evaluate the Transcranial direct current stimulation (tDCS) effect on facial allodynia induced by chronic constriction of the infraorbital nerve (CCI-ION) and on the brainstem levels of TNF-α, NGF, IL-10, and serum LDH in rats. Methods Rats were exposed to the CCI-ION model. Facial allodynia was assessed by von Frey filaments test at baseline, 3, 7, 10, and 14 days postsurgery and 24 hr and 7 days after the bimodal tDCS sessions for 20 min/day/8 days. Results Chronic constriction of the infraorbital nerve induced a significant decrease in the mechanical threshold 14 days after surgery. This effect was reversed by tDCS treatment, with the mechanical threshold returning to basal levels at 24 hr after the end of the treatment and it persisted for 7 days after the end of the treatment. tDCS also decreased LDH serum levels compared to those in the control group. There was an interaction between pain and treatment with respect to brainstem levels of NGF, TNF-α, and IL-10. Conclusion Chronic constriction of the infraorbital nerve model was effective in establishing trigeminal neuropathic pain on 14 days after surgery, and tDCS reduced allodynia and LDH serum levels and promoted alterations in NGF, TNF-α, and IL-10 brainstem levels. Thus, we suggest that tDCS may be a potential therapy in the trigeminal pain treatment.

The present study aimed to determine whether isoflurane interferes with the analgesic effects of acupuncture (Ac) and electroacupuncture (EA), using a neuropathic pain (NP) rat model. In total, 140 male Wistar rats were used; isoflurane-induced nociceptive response was evaluated using the von Frey test, serum calcium-binding protein b (S100b) levels and nerve growth factor (NGF) levels in the left sciatic nerve. The NP model was induced by chronic constriction injury of the sciatic nerve at 14 days after surgery. Treatment was initiated after NP induction with or without isoflurane anesthesia (20 min/ day/8 days). The von Frey test was performed at baseline, 14 days postoperatively, and immediately, 24 h, and 48 h after the last treatment. Results of the nociceptive test and three-way analysis of variance were analyzed by generalized estimating equations, the Bonferroni test, followed by StudenteNewmaneKeuls or Fisher’s least significant difference tests for comparing biochemical parameters (significance defined as p 0.05). At baseline, no difference was noted in the nociceptive response threshold among all groups. Fourteen days after surgery, compared with other groups, NP groups showed a decreased pain threshold, confirming establishment of NP. Ac and EA enhanced the mechanical pain threshold immediately after the last session in the NP groups, without anesthesia. Isoflurane administration caused increased nociceptive threshold in all groups, and this effect persisted for 48 h after the last treatment. There was an interaction between the independent variables: pain, treatments, and anesthesia in serum S100b levels and NGF levels in the left sciatic nerve. Isoflurane enhanced the analgesic effects of Ac and EA and altered serum S100b and left sciatic nerve NGF levels in rats with NP.

Com o advento das Tecnologias Digitais da Informação e Comunicação (TDIC) tem-se o surgimento de pesquisas acadêmicas sobre sistemas computacionais de Tradução Automática (TA) do Português Brasileiro (PB) para a Língua Brasileira de Sinais (Libras). Diante deste cenário, este estudo realiza uma Revisão Sistemática de Literatura (RSL) de artigos científicos brasileiros relativos à temática em questão, com vistas a analisar a produção científica desses durante o período de 2010 a 2018. Esta é uma pesquisa quanti-qualitativa, na qual foram analisados, sob o viés da RSL, 21 artigos científicos, coletados via Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES) e Google Acadêmico, os quais foram classificados em duas categorias (Ciências da Computação e Linguística Aplicada) e três subcategorias (Reflexão, Proposta, Experiência), para fins de sistematização da análise de dados. Os resultados revelaram aspectos como (a) a baixa produção científica sobre TA PB-Libras, (b) as regiões brasileiras Nordeste e Sul como os principais polos de publicação e (c) um percentual de artigos científicos mais expressivo voltado a abordagens relacionadas à área das Ciências da Computação do que à Linguística Aplicada. With the advent of the Digital Technologies of Information and Communication (DTIC) we have the emergence of academic researches on computational systems of Automatic Translation (AT) from Brazilian Portuguese (BP) to Brazilian Sign Language (Libras). Considering this scenario, this study performs a Systematic Literature Review (SLR) on Brazilian scientific papers related to the subject in question, with the aim of analyzing the scientific production of them during the period from 2010 to 2018. This is a quanti-qualitative research, in which 21 scientific papers were collected from the Periodicals of the Coordination for the Improvement of Higher Education Personnel (CAPES) and Google Scholar platforms, which were classified into two categories (Computer Science and Applied Linguistics) and three subcategories (reflection, proposal, experience) for the systematization of data analysis. The results obtained revealed aspects such as (a) the low scientific production on AT PB-Libras, (b) the Brazilian regions Northeast and South as the main poles of publication, and (c) a more expressive percentage of scientific articles focused on approaches related to the area of Computer Science than Applied Linguistics.