Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Global age-sex-specific mortality, life expectancy, and population estimates in 204 countries and territories and 811 subnational locations, 1950–2021, and the impact of the COVID-19 pandemic: a comprehensive demographic analysis for the Global Burden of Disease Study 2021

Background: Estimates of demographic metrics are crucial to assess levels and trends of population health outcomes. The profound impact of the COVID-19 pandemic on populations worldwide has underscored the need for timely estimates to understand this unprecedented event within the context of long-term population health trends. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2021 provides new demographic estimates for 204 countries and territories and 811 additional subnational locations from 1950 to 2021, with a particular emphasis on changes in mortality and life expectancy that occurred during the 2020–21 COVID-19 pandemic period. Methods: 22 223 data sources from vital registration, sample registration, surveys, censuses, and other sources were used to estimate mortality, with a subset of these sources used exclusively to estimate excess mortality due to the COVID-19 pandemic. 2026 data sources were used for population estimation. Additional sources were used to estimate migration; the effects of the HIV epidemic; and demographic discontinuities due to conflicts, famines, natural disasters, and pandemics, which are used as inputs for estimating mortality and population. Spatiotemporal Gaussian process regression (ST-GPR) was used to generate under-5 mortality rates, which synthesised 30 763 location-years of vital registration and sample registration data, 1365 surveys and censuses, and 80 other sources. ST-GPR was also used to estimate adult mortality (between ages 15 and 59 years) based on information from 31 642 location-years of vital registration and sample registration data, 355 surveys and censuses, and 24 other sources. Estimates of child and adult mortality rates were then used to generate life tables with a relational model life table system. For countries with large HIV epidemics, life tables were adjusted using independent estimates of HIV-specific mortality generated via an epidemiological analysis of HIV prevalence surveys, antenatal clinic serosurveillance, and other data sources. Excess mortality due to the COVID-19 pandemic in 2020 and 2021 was determined by subtracting observed all-cause mortality (adjusted for late registration and mortality anomalies) from the mortality expected in the absence of the pandemic. Expected mortality was calculated based on historical trends using an ensemble of models. In location-years where all-cause mortality data were unavailable, we estimated excess mortality rates using a regression model with covariates pertaining to the pandemic. Population size was computed using a Bayesian hierarchical cohort component model. Life expectancy was calculated using age-specific mortality rates and standard demographic methods. Uncertainty intervals (UIs) were calculated for every metric using the 25th and 975th ordered values from a 1000-draw posterior distribution. Findings: Global all-cause mortality followed two distinct patterns over the study period: age-standardised mortality rates declined between 1950 and 2019 (a 62·8% [95% UI 60·5–65·1] decline), and increased during the COVID-19 pandemic period (2020–21; 5·1% [0·9–9·6] increase). In contrast with the overall reverse in mortality trends during the pandemic period, child mortality continued to decline, with 4·66 million (3·98–5·50) global deaths in children younger than 5 years in 2021 compared with 5·21 million (4·50–6·01) in 2019. An estimated 131 million (126–137) people died globally from all causes in 2020 and 2021 combined, of which 15·9 million (14·7–17·2) were due to the COVID-19 pandemic (measured by excess mortality, which includes deaths directly due to SARS-CoV-2 infection and those indirectly due to other social, economic, or behavioural changes associated with the pandemic). Excess mortality rates exceeded 150 deaths per 100 000 population during at least one year of the pandemic in 80 countries and territories, whereas 20 nations had a negative excess mortality rate in 2020 or 2021, indicating that all-cause mortality in these countries was lower during the pandemic than expected based on historical trends. Between 1950 and 2021, global life expectancy at birth increased by 22·7 years (20·8–24·8), from 49·0 years (46·7–51·3) to 71·7 years (70·9–72·5). Global life expectancy at birth declined by 1·6 years (1·0–2·2) between 2019 and 2021, reversing historical trends. An increase in life expectancy was only observed in 32 (15·7%) of 204 countries and territories between 2019 and 2021. The global population reached 7·89 billion (7·67–8·13) people in 2021, by which time 56 of 204 countries and territories had peaked and subsequently populations have declined. The largest proportion of population growth between 2020 and 2021 was in sub-Saharan Africa (39·5% [28·4–52·7]) and south Asia (26·3% [9·0–44·7]). From 2000 to 2021, the ratio of the population aged 65 years and older to the population aged younger than 15 years increased in 188 (92·2%) of 204 nations. Interpretation: Global adult mortality rates markedly increased during the COVID-19 pandemic in 2020 and 2021, reversing past decreasing trends, while child mortality rates continued to decline, albeit more slowly than in earlier years. Although COVID-19 had a substantial impact on many demographic indicators during the first 2 years of the pandemic, overall global health progress over the 72 years evaluated has been profound, with considerable improvements in mortality and life expectancy. Additionally, we observed a deceleration of global population growth since 2017, despite steady or increasing growth in lower-income countries, combined with a continued global shift of population age structures towards older ages. These demographic changes will likely present future challenges to health systems, economies, and societies. The comprehensive demographic estimates reported here will enable researchers, policy makers, health practitioners, and other key stakeholders to better understand and address the profound changes that have occurred in the global health landscape following the first 2 years of the COVID-19 pandemic, and longer-term trends beyond the pandemic

Cirurgia de reposicionamento labial para correção de sorriso gengival - relato de caso

Objetivo: este relato de caso tem como por objetivo demonstrar uma forma de tratamento do sorriso gengival causado pela hiperfunção do músculo levantador do lábio superior sem a intervenção direta sobre ele. Relato de Caso: paciente gênero feminino, 22 anos, com queixa de excesso de exposição gengival ao sorrir. O exame diagnostica um sorriso gengival de 4 mm em função. A paciente foi orientada sobre diversas possibilidades de tratamento desde a aplicação de toxina botulínica até a correção por cirurgia ortognática. A paciente optou em realizar a correção por cirurgia de reposicionamento inferior labial. Conclusão: a Cirurgia de Reposição Labial é uma técnica capaz de tratar adequadamente, promovendo uma diminuição da quantidade de exposição gengival, de uma forma conservadora em casos onde a principal causa é a hiperfunção do músculo levantador do lábio superior

Reparo ósseo em defeito peri-implantar com e sem associação de enxerto ósseo autógeno obtido por Piezocirurgia: estudo experimental em coelhos

Proposição: A proposta deste estudo foi avaliar por análise histométrica a resposta tecidual óssea de enxerto autógeno coletado por piezocirurgia para o preenchimento de defeitos nas porções cervicais de implantes instalados em tíbias de coelhos. Métodos: Foram instalados 26 implantes em 13 tíbias de coelho, após a estabilidade inicial foram realizados defeitos cervicais por trefinagem, em um grupo foi mantido apenas o coágulo como preenchimento e em outro grupo o defeito foi preenchido por osso autógeno coletado por equipamento piezoelétrico, os animais foram sacrificados após 15 e 30 dias, a análise histométrica das interfaces implante-osso foram realizadas pelo software Image Lab. Resultados: Foi analisado o percentual de extensão linear de contato entre tecido ósseo e implante, a média percentual obtida de contato entre tecido ósseo neoformado e implante foram estabelecidas como médias da área de osso neoformado entre as espiras e contato osso-implante (BIC). Os resultados obtidos foram: no controle de 15 dias, o percentual entre as espiras foi de 65,2% e entre as espiras e contato osso-implante (BIC) de 88,7%. No controle de 30 dias o contato entre as espiras foi na ordem de 65,2% e entre as espiras e contato osso-implante (BIC) de 73,2%. No grupo de enxerto de 15 dias, o osso formado entre as espiras foi de 69,3% e entre as espiras e contato osso-implante (BIC) em 81%, no grupo enxerto 30 dias o osso formado entre as espiras foi de 91,47% e entre as espiras e contato ossoimplante (BIC) 91,56%. Conclusão: o enxerto ósseo autógeno particulado obtido por piezocirurgia apresenta melhor resultado que o coágulo sanguíneo no osso neoformado entre as espiras e no contato osso-implantePurpose: The purpose of this study was to evaluate by histometric analysis the outcome of autogenous bone collected through piezo surgery equipment in filling cervical portion defects around implants placed in rabbits tibias. Materials and Methods: Twenty-six implants were installed in 13 rabbits tibias, after initial primary stability, cervical defects were carried out by the use of a trephina, in one group the cloth was maintained as the defect filling and in another group the defect was filled by autogenous bone collected through piezo surgery equipment, the animals were sacrificed after 15 and 30 days, the histometric analysis of the implant-bone interfaces were carried out by the use of Image Lab software. Results: The lineal stretch percentage of contact between bone and implant was analyzed, the average percentage obtained in the contact between the newly formed bone and the implant was established as the average area of the newly formed bone in the space between the spires and the bone-implant contact (BIC). The results obtained were: in the 15-days control group, the percentage of bone formation between the spires was of 65.2% and between the spires and boneimplant contact (BIC) was of 88.7%. In the 30-days control group the contact between the spires was of 65.2% and between the spires and bone-implant contact (BIC) of 73.2%. In the 15-days control grafted group, the formed bone between the spires was of 69.3% and between the spires and bone-implant contact (BIC) of 81%, in the 30-days control grafted group, the formed bone between the spires was of 91.47% and between the spires and bone-implant contact (BIC) of 91.56%. Conclusions: the autogenous bone collected through piezo surgery equipment showed better results than the blood clot regarding the newly formed bone between the spires and bone-implant contact (BIC)Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

The Extracellular δ-Domain is Essential for the Formation of CD81 Tetraspanin Webs

International audienc

Utilization of surgical trepan for the obtainment of calvarial autogenous bone graft in maxillary reconstructions

Maxillomandibular reconstructions are traditionally performed by means of autogenous bone grafts collected from intraoral donor areas and extraoral donor areas such as clavicle, iliac bone, rib, and tibia. The calvarial bone has been studied as an alternative donor area, with a low incidence of complications and minimal postoperative morbidity. Complications such as dural lacerations associated with cerebrospinal fluid leakage and extradural and subdural bleeding were minimized due to the use of surgical trepan, allowing the diploic layer delimitation before the osteotomy, preserving the internal calvarial cortical. The purpose of this article is to suggest a new technique for the obtainment of calvarial bone grafts with surgical trepan

Epidemiologic Evaluation of Mandibular Fractures in the Rio de Janeiro High-Complexity Hospital

The aim of this study was to gather data on trauma etiology and mandibular fracture localization in patients who presented at the General Hospital of Nova Iguacu, Rio de Janeiro, Brazil. From March 2007 to December 2008, 95 patients with mandibular fracture were registered in a medical form, at the Bucomax-illofacial Surgery Department of the General Hospital of Nova Iguacu, Rio de Janeiro, Brazil. Concerning mandibular fracture etiology, 21.05% were caused by motorcycle accidents, followed by interpersonal violence without use of weapons (punches, kicks, bumps with the head, blows with the elbow, etc) (16.84%) and interpersonal violence with firearm (14.73%). It was found that 52.63% of the patients had a single fracture line. The most affected fracture area was the parasymphysis (26.02%), followed by the condyle (22.60%) and mandibular angle (18.49%). Concerning the injury area, 24.21% were directed to the mandibular symphysis, 22.17% of the patients did not remember the injury area, and 18.94% had multiple injuries. When the injury was directed to the symphysis, the result was more condyle fractures (11.64%), and injuries at the mandibular angle resulted in fractures at the angle itself (8.90%). The most common fracture cause was traffic accidents, mainly motorcycle accidents, and the most affected areas were the parasymphysis and the condyle. The mandible isolated fractures occurred in half of the cases. Motorcycle accidents resulted in more fractures in the parasymphysis area, and when the symphysis area is affected by injuries, the result is a higher percentage in condyle fractures

Protocolo de ozonioterapia na prevenção da osteonecrose dos maxilares induzida por medicamentos em modelo animal

Reports of osteonecrosis of the jaws are frequent in patients on chronic use of antiresorptives and antiangiogenic medications. Studies have shown that ozone therapy can stimulate cell proliferation and wound healing. The aim of this study was to evaluate the histological areas of extraction in rats previously submitted to Medication-related osteonecrosis of the jaw (MRONJ) under topic aplication of ozonated oil. Twelve (12) Wistar rats were divided into two groups: Negative Control (G1, n=5), these rats received injection of zoledronic acid solution once a week for five weeks and extraction of the first maxillary molar and maintenance of the alveolus with clot; Positive Control (G2, n=7), these rats received injection of zoledronic acid solution once a week for five weeks and extraction of the first upper molar and maintenance of the alveolus with application of ozonated oil for three consecutive days. Extractions were performed on the 7th week after osteonecrosis induction protocol and then area block resection was performed on the 15th week after induction. Histopathological analysis revealed that all of the animals of G1 group presented non-vital areas with empty osteocyte lacunae (indicative of osteonecrosis) associated to a varied amount of bacterial colonies. In G2 group, 57.13% had vital bone, and 14.28% presented bacterial colonies. In 42.85% of the samples from the G2 group there were discrete osteonecrotic areas, however, in 14.28%, no bacterial colonies were found. This study shows positive results of the ozoned oil used to prevent the development of MRONJ in rats and it should be considered for future clinical trials in prevention of MRONJ lesionsSão frequentes os relatos de osteonecrose dos maxilares em pacientes que fazem uso crônico de medicações antirresorptivas e antiangiogênicas. Estudos demonstram que a Ozonioterapia pode estimular a proliferação celular e a cicatrização. O objetivo deste trabalho foi avaliar histologicamente áreas de exodontia em ratos induzidos a Osteonecrose dos Maxilares Induzida por Medicamentos (OMIM) após uso do óleo ozonizado. Doze (12) ratos da raça Wistar albinus foram divididos em 2 grupos, sendo estes: Grupo Controle Negativo (G1, n=5 ratos), onde receberam injeção intravenosa de ácido zoledrônico semanalmente durante cinco semanas; exodontia de primeiro molar superior direito e manutenção do alvéolo com coágulo; Grupo Controle Positivo (G2, n=7 ratos), que receberam injeção de solução ácido zoledrônico semanalmente durante cinco semanas; exodontia de primeiro molar superior direito com aplicação de óleo ozonizado diretamente no alvéolo por três dias consecutivos. As extrações foram realizadas na 7ª semana após o início do protocolo de indução dos grupos. Já as ressecções em bloco das regiões de interesse foram realizadas na 15ª semana após início da indução. A análise histopatológica revelou que no Grupo G1 todas as amostras apresentaram áreas de osso não-vital com lacunas de osteócitos vazias (indicando osteonecrose) associadas a variadas colônias bacterianas; No Grupo G2, 57.13% das amostras não apresentou nenhuma área de osteonecrose, e dentro destes, 14.28% apresentou colônias bacterianas. Em 42.85% das amostras do grupo G2 houve pequenas áreas osteonecróticas, porém, em 14.28%, constatou-se a ausência de colônias. O estudo demonstra resultados positivos quanto ao óleo ozonizado utilizado para prevenir o desenvolvimento de OMIM em ratos, e deve ser considerado em futuros estudos clínicos para a prevenção desta lesã