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1.
BMC Public Health ; 24(1): 1210, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38693512

RESUMO

BACKGROUND: Available data show that the epidemiological profile of most indigenous Brazilian populations is characterized by the coexistence of long-standing health problems (high prevalence of infectious and parasitic diseases, malnutrition, and deficiency diseases, such as anemia in children and women of reproductive age), associated with new health problems, especially those related to obesity (hypertension, type 2 diabetes mellitus and dyslipidemia). Based on this scenario, this study analyzed the nutritional profile of the adult population of seven indigenous peoples from the Brazilian Amazon in the years 2007 and 2021. METHODS: A total of 598 adults individuals were analyzed in 2007 (319 women and 279 men) and 924 in 2021 (483 women and 441 men), from seven indigenous peoples located in the state of Pará, who were assisted during health actions carried out in 2007 and in 2021. Body mass index classification used the World Health Organization criteria for adults: low weight, < 18.5 kg/m2; normal weight, ≥ 18.5 and < 25 kg/m2); overweight, ≥ 25 and < 30 kg/m2, and obesity, ≥ 30 kg/m2. A waist circumference (WC) < 90 cm in men and < 80 cm in women was considered normal. RESULTS: The data revealed heterogeneous anthropometric profiles, with a low prevalence of nutritional changes in the Araweté, Arara and Parakanã peoples, and high proportions of excess weight and abdominal obesity in the Kararaô, Xikrin do Bacajá, Asurini do Xingu and Gavião peoples, similar to or even higher than the national averages. CONCLUSION: Different stages of nutritional transition were identified in the indigenous peoples analyzed, despite apparently having been subjected to the same environmental pressures that shaped their nutritional profile in recent decades, which may indicate different genetic susceptibilities to nutritional changes. The evidence shown in this study strongly suggests the need to investigate in greater depth the genetic and environmental factors associated with the nutritional profile of Brazilian indigenous peoples, with assessment of diet, physical activity and sociodemographic and socioeconomic variables that enable the development of appropriate prevention and monitoring measures.


Assuntos
Indígenas Sul-Americanos , Obesidade Abdominal , Obesidade , Sobrepeso , Humanos , Brasil/epidemiologia , Feminino , Masculino , Adulto , Obesidade Abdominal/epidemiologia , Obesidade Abdominal/etnologia , Indígenas Sul-Americanos/estatística & dados numéricos , Sobrepeso/epidemiologia , Sobrepeso/etnologia , Pessoa de Meia-Idade , Obesidade/epidemiologia , Obesidade/etnologia , Adulto Jovem , Prevalência , Povos Indígenas/estatística & dados numéricos , Adolescente
2.
Artigo em Inglês | MEDLINE | ID: mdl-38656041

RESUMO

Quilombo remnant communities are areas officially recognized by the Brazilian government as historical communities founded by formerly enslaved individuals. These communities are mostly located in the endemic areas of malaria in the Brazilian Amazon. We retrospectively described the prevalence of malaria among individuals living in 32 recognized quilombo remnant communities in the Baiao and Oriximina municipalities located in the Para State. The number of malaria cases and the Annual Parasitic Incidence (API) recorded by the Brazilian malaria surveillance system (SIVEP-Malaria) from January 2005 to December 2020 were analyzed. We found that all communities registered at least one case over the 16-year period, the most frequent parasitic species being Plasmodium vivax (76.1%). During this period, 0.44% (4,470/1,008,714) of the malaria cases registered in Para State were reported in these quilombo remnant communities, with frequencies of 10.9% (856/7,859) in Baiao municipality and 39.1% (3,614/9,238) in Oriximina municipality, showing that individuals living in these rural communities are exposed to malaria. These data indicate that effective surveillance requires improved measures to identify malaria transmission among vulnerable populations living in quilombo remnant communities in the Brazilian Amazon.


Assuntos
Malária Vivax , Populações Vulneráveis , Humanos , Brasil/epidemiologia , Estudos Transversais , Estudos Retrospectivos , Prevalência , Malária Vivax/epidemiologia , Incidência , Feminino , Masculino , Adulto , População Rural , Adolescente , Malária/epidemiologia , Malária/transmissão , Adulto Jovem , Criança , Pessoa de Meia-Idade , Malária Falciparum/epidemiologia , Pré-Escolar
3.
Rev Bras Ortop (Sao Paulo) ; 59(2): e235-e240, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38606140

RESUMO

Objective To analyze whether there is more bleeding in patients undergoing total knee arthroplasty (TKA) without using a tourniquet. The secondary objectives were to analyze the operative time, the length of hospital stay, the need for transfusion, and the complication rate. Methods The present is a retrospective study through the analysis of medical records. The patients were divided into two groups: TKA with and without the use of a tourniquet. Reductions in the levels of hemoglobin and packed cell volume 24 h and 48 h after surgery, the operative time, the length of hospital stay, the need for transfusion, and the rate of complications up to 6 months postoperatively were compared between the groups. Results During the period analyzed, 104 patients underwent TKA, and 94 were included in the study. There were no differences between the groups regarding the mean values of hemoglobin and packed cell volume before surgery ( p = 0.675 and p = 0.265), 24 h ( p = 0.099 and p = 0.563), and 48 h ( p = 0.569 and p = 0.810) after the procedure. Neither were there differences between the groups in terms of the operative time and the length of hospital stay ( p = 0.484 and p > 0.05). Moreover, there were no differences regarding the need for transfusion and the complication rate. Conclusion It is possible to forgo the use a tourniquet in TKA without a significant change in hemoglobin and packed cell volume levels 24 h and 48 h after surgery when compared with the group using a tourniquet. There were no significant differences in the total operative time, length of stay, need for transfusion, and complication rate.

4.
Viruses ; 16(3)2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38543725

RESUMO

Coronavirus disease 2019 (COVID-19) is an infection caused by SARS-CoV-2. Genome-wide association studies (GWASs) have suggested a strong association of genetic factors with the severity of the disease. However, many of these studies have been completed in European populations, and little is known about the genetic variability of indigenous peoples' underlying infection by SARS-CoV-2. The objective of the study is to investigate genetic variants present in the genes AQP3, ARHGAP27, ELF5L, IFNAR2, LIMD1, OAS1 and UPK1A, selected due to their association with the severity of COVID-19, in a sample of indigenous people from the Brazilian Amazon in order to describe potential new and already studied variants. We performed the complete sequencing of the exome of 64 healthy indigenous people from the Brazilian Amazon. The allele frequency data of the population were compared with data from other continental populations. A total of 66 variants present in the seven genes studied were identified, including a variant with a high impact on the ARHGAP27 gene (rs201721078) and three new variants located in the Amazon Indigenous populations (INDG) present in the AQP3, IFNAR2 and LIMD1 genes, with low, moderate and modifier impact, respectively.


Assuntos
COVID-19 , Humanos , COVID-19/epidemiologia , COVID-19/genética , SARS-CoV-2/genética , Estudo de Associação Genômica Ampla , Frequência do Gene , Povos Indígenas/genética , Peptídeos e Proteínas de Sinalização Intracelular , Proteínas com Domínio LIM
5.
Rev Bras Ortop (Sao Paulo) ; 59(1): e76-e81, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38524708

RESUMO

Objective : Evaluate osteoarthritis incidence in patients that undergone ACL reconstruction using the transtibial technique, with a minimum of 5 years of follow up, with isolated ACL injury. Methods : Patients who underwent ACL reconstruction by the same surgeon using the transtibial technique with hamstrings graft and with a minimum of 5 years of follow-up, without other injuries during the surgical procedure, were selected to undergo imaging exams of the operated knee to assess the incidence of osteoarthritis. The obtained data were evaluated by descriptive statistics. Results : Forty-two patients (44 knees) were evaluated, with a mean age of 31 years old (SD: 8), being 23 right knees and 28 male patients. Mean time from surgery to imaging evaluation was 94.1 months (ranging from 60 to 154 months; SD: 28). Of the evaluated knees, 37 did not have osteoarthritis (83.3%) and 7 had (16.7%). Conclusion : ACL reconstruction with femoral tunnel performed through the transtibial technique in patients without other associated injuries in the operated knee, using hamstrings graft, with a minimum of 5 years of follow up, showed an osteoarthritis incidence of 16.7% in a mean follow-up of 94.1 months. Level Of Evidence V; Case Series.

6.
Infect Genet Evol ; 118: 105564, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38307396

RESUMO

This pilot study aimed to investigate genetic factors that may have contributed to the milder clinical outcomes of COVID-19 in Brazilian indigenous populations. 263 Indigenous from the Araweté, Kararaô, Parakanã, Xikrin do Bacajá, Kayapó and Munduruku peoples were analyzed, 55.2% women, ages ranging from 10 to 95 years (average 49.5 ± 20.7). Variants in genes involved in the entry of SARS-CoV-2 into the host cell (ACE1 rs1799752 I/D, ACE2 rs2285666 C/T, ACE2 rs73635825 A/G and TMPRSS2 rs123297605 C/T), were genotyped in indigenous peoples from the Brazilian Amazon, treated during the SARS-CoV-2 pandemic between 2020 and 2021. The distribution of genotypes did not show any association with the presence or absence of IgG antibodies. Additionally, the influence of genetic variations on the severity of the disease was not examined extensively because a significant number of indigenous individuals experienced the disease with either mild symptoms or no symptoms. It is worth noting that the frequencies of risk alleles were found to be lower in Indigenous populations compared to both continental populations and Brazilians. Indigenous Brazilian Amazon people exhibited an ethnic-specific genetic profile that may be associated with a milder disease, which could explain the unexpected response they demonstrated to COVID-19, being less impacted than Brazilians.


Assuntos
COVID-19 , Peptidil Dipeptidase A , Serina Endopeptidases , Feminino , Humanos , Masculino , Enzima de Conversão de Angiotensina 2/genética , Brasil/epidemiologia , COVID-19/epidemiologia , COVID-19/genética , Peptidil Dipeptidase A/genética , Projetos Piloto , SARS-CoV-2/fisiologia , Serina Endopeptidases/genética , Indígenas Sul-Americanos
7.
Sci Total Environ ; 923: 171232, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38402986

RESUMO

Studies have identified elevated levels of mercury in Amazonian Indigenous individuals, highlighting them as one of the most exposed to risks. In the unique context of the Brazilian Indigenous population, it is crucial to identify genetic variants with clinical significance to better understand vulnerability to mercury and its adverse effects. Currently, there is a lack of research on the broader genomic profile of Indigenous people, particularly those from the Amazon region, concerning mercury contamination. Therefore, the aim of this study was to assess the genomic profile related to the processes of mercury absorption, distribution, metabolism, and excretion in 64 Indigenous individuals from the Brazilian Amazon. We aimed to determine whether these individuals exhibit a higher susceptibility to mercury exposure. Our study identified three high-impact variants (GSTA1 rs1051775, GSTM1 rs1183423000, and rs1241704212), with the latter two showing a higher frequency in the study population compared to global populations. Additionally, we discovered seven new variants with modifier impact and a genomic profile different from the worldwide populations. These genetic variants may predispose the study population to more harmful mercury exposure compared to global populations. As the first study to analyze broader genomics of mercury metabolism pathways in Brazilian Amazonian Amerindians, we emphasize that our research aims to contribute to public policies by utilizing genomic investigation as a method to identify populations with a heightened susceptibility to mercury exposure.


Assuntos
Mercúrio , Humanos , Mercúrio/análise , Indígenas Sul-Americanos/genética , Povos Indígenas , Genômica , Brasil
8.
J ISAKOS ; 9(2): 211-214, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38081388

RESUMO

Extraarticular infection after anterior cruciate ligament reconstruction (ACLr) is a rare condition with challenging diagnosis because the symptoms are milder and more insidious when compared to septic arthritis. When late (>2 months after surgery), it tends to be associated with osteomyelitis, requiring more extensive surgical debridement and hardware removal. We report a case of extraarticular infection after ACLr, in the acute phase affecting the tibial site and 9 years after index surgery affecting around the femur site. There was no progression to osteomyelitis at any of the sites. The infection developed a large posterolateral encapsulated abscess, with the endobutton plate loose inside it with its loop intact. In addition to the absence of osteomyelitis progression, there was no sinus tract formation, graft or joint involvement. With open debridement and antibiotic therapy, the patient returned to his activities without limitations. The reported case highlights that extraarticular infection after ACLr, while rare, can be challenging to diagnose and treat. However, with appropriate treatment, it can lead to good results with no functional limitations.


Assuntos
Reconstrução do Ligamento Cruzado Anterior , Artrite Infecciosa , Osteomielite , Humanos , Reconstrução do Ligamento Cruzado Anterior/efeitos adversos , Reconstrução do Ligamento Cruzado Anterior/métodos , Osteomielite/complicações , Osteomielite/cirurgia , Tíbia/cirurgia , Fêmur/cirurgia , Artrite Infecciosa/diagnóstico , Artrite Infecciosa/tratamento farmacológico , Artrite Infecciosa/etiologia
9.
Cell Rep Med ; 4(11): 101260, 2023 11 21.
Artigo em Inglês | MEDLINE | ID: mdl-37913776

RESUMO

An automatic prediction of mental health crises can improve caseload prioritization and enable preventative interventions, improving patient outcomes and reducing costs. We combine structured electronic health records (EHRs) with clinical notes from 59,750 de-identified patients to predict the risk of mental health crisis relapse within the next 28 days. The results suggest that an ensemble machine learning model that relies on structured EHRs and clinical notes when available, and relying solely on structured data when the notes are unavailable, offers superior performance over models trained with either of the two data streams alone. Furthermore, the study provides key takeaways related to the required amount of clinical notes to add value in predictive analytics. This study sheds light on the untapped potential of clinical notes in the prediction of mental health crises and highlights the importance of choosing an appropriate machine learning method to combine structured and unstructured EHRs.


Assuntos
Registros Eletrônicos de Saúde , Saúde Mental , Humanos , Aprendizado de Máquina
10.
Genes (Basel) ; 14(11)2023 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-38003018

RESUMO

Since the discovery of the polymorphic nature of the IFNL4 gene, its variants have been investigated and associated with several viral diseases, with an emphasis on hepatitis C. However, the impacts of these variants on mixed-race and native populations in the northern region of Brazil are scarce. We investigated three variants of the IFNL4 gene in populations from this location, which were among the 14 most frequent variants in worldwide populations, and compared the frequencies obtained to populational data from the 1000 Genomes Project, gnomAD and ABraOM databases. Our results demonstrate that mixed-race and native populations from the northern region of Brazil present frequencies like those of European and Asian groups for the rs74597329 and rs11322783 variants, and like all populations presented for the rs4803221 variant. These data reinforce the role of world populations in shaping the genetic profile of Brazilian populations, indicate patterns of illness according to the expressed genotype, and infer an individual predisposition to certain diseases.


Assuntos
Genótipo , Brasil
11.
J Pers Med ; 13(9)2023 Sep 08.
Artigo em Inglês | MEDLINE | ID: mdl-37763132

RESUMO

Gastric Cancer is a disease associated with environmental and genetic changes, becoming one of the most prevalent cancers around the world and with a high incidence in Brazil. However, despite being a highly studied neoplastic type, few efforts are aimed at populations with a unique background and genetic profile, such as the indigenous peoples of the Brazilian Amazon. Our study characterized the molecular profile of five genes associated with the risk of developing gastric cancer by sequencing the complete exome of 64 indigenous individuals belonging to 12 different indigenous populations in the Amazon. The analysis of the five genes found a total of 207 variants, of which 15 are new in our indigenous population, and among these are two with predicted high impact, present in the TTN and CDH1 genes. In addition, at least 20 variants showed a significant difference in the indigenous population in comparison with other world populations, and three are already associatively related to some type of cancer. Our study reaffirms the unique genetic profile of the indigenous population of the Brazilian Amazon and allows us to contribute to the conception of early diagnosis of complex diseases such as cancer, improving the quality of life of individuals potentially suffering from the disease.

12.
Comput Med Imaging Graph ; 108: 102280, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37597380

RESUMO

Magnetic Resonance Imaging (MRI) typically comes at the cost of small spatial coverage, high expenses and long scan times. Accelerating MRI acquisition by taking less measurements yields the potential to relax these inherent forfeits. Recent breakthroughs in the field of Machine Learning have shown high-resolution (HR) images could be recovered from low-resolution (LR) signals via super-resolution (SR). In particular, a novel class of neural networks named Generative Adversarial Networks (GAN) has manifested an alternative way of conceiving models capable of generating data. GANs can learn to infer details based on some prior information, subsequently recovering missing data. Accordingly, they manifest huge potential in MRI reconstruction and acceleration tasks. This paper conducts a review on GAN-based SR methods, exhibiting the immersive ability of GANs on upscaling MRIs by a scale factor of ×4 while at the same time maintaining trustworthy and high-frequency details. Despite quantitative results suggesting SRResCycGAN outperforms other popular deep learning methods in recovering ×4 downgraded images, qualitative results show Beby-GAN holds the best perceptual quality and proves GAN-based methods hold the capacity to reduce medical costs, distress patients and even enable new MRI applications where it is currently too slow or expensive.


Assuntos
Aprendizado de Máquina , Imageamento por Ressonância Magnética , Humanos , Redes Neurais de Computação
13.
Front Microbiol ; 14: 1217134, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37425995

RESUMO

Introduction: Human T-lymphotropic virus 2 (HTLV-2) has been described for more than 30 years as an endemic infection in Brazilian indigenous populations, with its occurrence varying by age and sex, maintained mainly by sexual intercourse and mother-to-child transmission, favoring intrafamilial aggregation. Methods: The epidemiological scenario of HTLV-2 infection has been described among communities of the Amazon region of Brazil (ARB), with the number of retrospective positive blood samples increasing for more than 50 years. Results: Five publications were selected that showed the presence of HTLV-2 in 24 of 41 communities; the prevalence of infection was described among 5,429 individuals at five points in time. Among the Kayapó villages, the prevalence rates were described according to age and sex and reached up to 41.2%. Three communities (Asurini, Araweté, and Kaapor) were kept virus free for 27 to 38 years of surveillance. Low, medium and high prevalence levels of infection were defined, and two pockets of high endemicity were shown in the state of Pará, pointing to the Kikretum and Kubenkokrê Kayapó villages as the epicenter of HTLV-2 in the ARB. Discussion: The prevalence rates over the years have shown a decline among the Kayapó (from 37.8 to 18.4%) and an apparent change to a higher prevalence among females, but not during the first decade of life, usually associated with transmission from mother to child. Sociocultural and behavioral aspects, as well as public health policies directed toward sexually transmitted infections, might have positively influenced the decline in HTLV-2 infections.

14.
Acta Ortop Bras ; 31(spe2): e262186, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37323148

RESUMO

Objective: Compare the results of medial unicompartmental knee arthroplasty (UKA) using a mobile platform and total knee arthroplasty (TKA) in patients with isolated medial osteoarthritis. Methods: Retrospectivecross-sectional study. Preoperative radiographs of 602 patientswho underwent knee arthroplastybetween February 2017 and February 2020 were evaluated. Isolated medial osteoarthritis was found in 125 patients. Of these, 57 underwent UKA and 68 TKA. With chart analysis and telephone interviews, we compared patients' clinical outcomes and degree of satisfaction. The statistical analysis used a confidence level of 5%. Results: The group of UKA patients obtained 65.8% of favorable results against 79.1% of those undergoing TKA in the function questionnaire (p<0.0001). The complication rate was statistically similar between the groups(p>0.5). Most patients were satisfied or very satisfied in both groups (88.6% of UKA and 91.2% of TKA) (p>0.999). Conclusion: Patients submitted to UKA or TKA have presented the same degree of satisfaction and rate of postoperative complications when comparing patients with isolated medial osteoarthritis. UKA patients had less favorable results onthe clinical functional questionnaire than patients undergoing total arthroplasty. Level Of Evidence III;Retrospective Study.


Objetivo: Comparar os resultados da artroplastia unicompartimental do joelho (UKA) medial com plataforma móvel e artroplastia total do joelho (TKA) em pacientes com osteoartrose medial isolada. Métodos: Estudo transversal retrospectivo. Foram avaliadas radiografias pré-operatórias de 602 pacientes submetidos à artroplastia de joelho entre fevereiro de 2017 e fevereiro de 2020. A osteoartrose medial isolada foi encontrada em 125 pacientes, destes em 57 haviam sido submetidos a UKA e 68 TKA. Com análise de prontuários e entrevistas telefônicas comparamos os resultados clínicos e o grau de satisfação dos pacientes. A análise estatística utilizou nível de confiança de 5%. Resultados: O grupo de pacientes com UKA obteve 65,8% de resultados favoráveis contra 79,1% daqueles submetidos à TKA no questionário de função (p<0,0001). A taxa de complicações foi estatisticamente semelhante entre os grupos (p>0,5). A maioria dos pacientes estava satisfeita ou muito satisfeita em ambos os grupos (88,6% de UKA e 91,2% de TKA) (p>0,999). Conclusão: Pacientes submetidos a UKA ou TKA apresentaram o mesmo grau de satisfação e taxa de complicações pós-operatórias quando comparados pacientes com osteoartrite medial isolada. Os pacientes da UKA apresentaram resultados menos favoráveis ao questionário clínico funcional do que os pacientes submetidos à artroplastia total. Nível de Evidência III; Estudo Retrospectivo.

15.
Acta Ortop Bras ; 31(2): e264848, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37151727

RESUMO

Objective: To evaluate the citation of the ligament in the magnetic resonance imaging (MRI) reports and confirm its presence and injury in the images of exams performed in the acute phase retrospectively. Methods: In total, 103 patients who underwent anterior cruciate ligament (ACL) reconstruction in 2019 were included. The images were reanalyzed by two radiologists. Results: In the first analysis, only one report mentioned the anterolateral ligament (ALL) and its injury (0.97%). On reanalysis, ALL was visualized in almost all cases (95% and 97%). An injury was found in 53 (51.5%) cases by radiologist A and in 56 (54.4%) cases by radiologist B. The injury was diagnosed by both in 39 (37.9%) cases (p < 0.0001). Radiologists disagreed regarding the injury (Kappa = 0.411). Conclusion: The reports failed to describe the ligament and diagnose a significant number of injuries. The analysis of conventional resonance images still presents divergences in the diagnosis of ALL injury associated with the ACL among radiologists. Level of Evidence IV, Case Series.


Objetivo: Avaliar, de forma retrospectiva, a citação do ligamento anterolateral (LAL) em laudos de ressonância magnética (RM) e confirmar sua presença e lesão nas imagens de exames feitos na fase aguda. Métodos: Foram incluídos 103 pacientes submetidos à reconstrução do ligamento cruzado anterior (LCA) em 2019, cujas imagens foram reanalisadas por dois radiologistas. Resultados: Em primeira análise, apenas um laudo citava o LAL e sua lesão (0,97%); enquanto na reanálise, o LAL foi visualizado em quase todos os casos (95% pelo radiologista A e 97% pelo radiologista B). Foi encontrada lesão em 53 (51,5%) casos pelo radiologista A e 56 (54,4%) pelo radiologista B. Lesão foi diagnosticada por ambos em 39 (37,9%) casos (p < 0,0001). Houve divergência entre os radiologistas com relação à lesão (KappaL = 0,411). Conclusão: Os laudos deixaram de descrever o ligamento e diagnosticar um número significativo de lesões. A análise das imagens convencionais de ressonância ainda gera divergências no diagnóstico da lesão do LAL associada ao LCA entre os radiologistas. Nível de Evidência IV, Série de Casos.

16.
Artigo em Inglês | MEDLINE | ID: mdl-37027696

RESUMO

As virtual reality (VR) is typically designed in terms of visual experience, it poses major challenges for blind people to understand and interact with the environment. To address this, we propose a design space to explore how to augment objects and their behaviours in VR with a nonvisual audio representation. It intends to support designers in creating accessible experiences by explicitly considering alternative representations to visual feedback. To demonstrate its potential, we recruited 16 blind users and explored the design space under two scenarios in the context of boxing: understanding the location of objects (the opponent's defensive stance) and their movement (opponent's punches). We found that the design space enables the exploration of multiple engaging approaches for the auditory representation of virtual objects. Our fndings depicted shared preferences but no one-size-fts-all solution, suggesting the need to understand the consequences of each design choice and their impact on the individual user experience.

17.
Int J Mol Sci ; 24(5)2023 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-36902388

RESUMO

CCR5Δ32 and SDF1-3'A polymorphisms were investigated in a cohort of viremia controllers, without the use of therapy, along with their influence on CD4+ T lymphocytes (TLs), CD8+ TLs, and plasma viral load (VL). The samples were analyzed from 32 HIV-1-infected individuals classified as viremia controllers 1 and 2 and viremia non-controllers, from both sexes, mostly heterosexuals, paired with 300 individuals from a control group. CCR5∆32 polymorphism was identified by PCR amplification of a fragment of 189 bp for the wild-type allele and 157 bp for the allele with the ∆32 deletion. SDF1-3'A polymorphism was identified by PCR, followed by enzymatic digestion (restriction fragment length polymorphism) with the Msp I enzyme. The relative quantification of gene expression was performed by real-time PCR. The distribution of allele and genotype frequencies did not show significant differences between the groups. The gene expression of CCR5 and SDF1 was not different between the profiles of AIDS progression. There was no significant correlation between the progression markers (CD4+ TL/CD8+ TL and VL) and the CCR5∆32 polymorphism carrier status. The 3'A allele variant was associated with a marked loss of CD4+ TLs and a higher plasma VL. Neither CCR5∆32 nor SDF1-3'A was associated with viremia control or the controlling phenotype.


Assuntos
Síndrome da Imunodeficiência Adquirida , Quimiocina CXCL12 , Infecções por HIV , Receptores CCR5 , Feminino , Humanos , Masculino , Síndrome da Imunodeficiência Adquirida/genética , Biomarcadores , Brasil , Quimiocina CXCL12/genética , Progressão da Doença , Frequência do Gene , HIV-1 , Receptores CCR5/genética , Viremia
18.
Diabetes Res Clin Pract ; 199: 110641, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36966975

RESUMO

AIMS: While lifestyle factors are strongly associated with Type 2 diabetes (T2DM), genetic characteristics also play a role. However, much of the research on T2DM genetics focuses on European and Asian populations, leaving underrepresented groups, such as indigenous populations with high diabetes prevalence, understudied. METHODS: We characterized the molecular profile of 10 genes involved in T2DM risk through complete exome sequencing of 64 indigenous individuals belonging to 12 different Amazonian ethnic groups. RESULTS: The analysis revealed 157 variants, including four exclusive variants in the indigenous population located in the NOTCH2 and WFS1 genes with a modifier or moderate impact on protein effectiveness. Furthermore, a high impact variant in NOTCH2 was also found. Additionally, the frequency of 10 variants in the indigenous group showed significant differences when compared to other global populations that were evaluated. CONCLUSION: Our study identified 4 novel variants associated with T2DM in the NOTCH2 and WFS1 genes in the Amazonian indigenous populations we studied. In addition, a variant with a high predicted impact in NOTCH2 was also observed. These findings represent a valuable starting point for conducting further association and functional studies, which could help to improve our understanding of the unique characteristics of this population.


Assuntos
Diabetes Mellitus Tipo 2 , Povos Indígenas , Humanos , Brasil/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/genética , Etnicidade , Predisposição Genética para Doença , Povos Indígenas/genética
19.
Genes (Basel) ; 14(2)2023 02 10.
Artigo em Inglês | MEDLINE | ID: mdl-36833388

RESUMO

Non-small cell lung cancer (NSCLC) accounts for the vast majority of cases of lung neoplasms. It is formed in multiple stages, with interactions between environmental risk factors and individual genetic susceptibility and with genes involved in the immune and inflammatory response paths, cell or genome stability, and metabolism, among others. Our objective was to evaluate the association between five genetic variants (IL-1A, NFKB1, PAR1, TP53, and UCP2) and the development of NSCLC in the Brazilian Amazon. The study included 263 individuals with and without lung cancer. The samples were analyzed for the genetic variants of NFKB1 (rs28362491), PAR1 (rs11267092), TP53 (rs17878362), IL-1A (rs3783553), and UCP2 (INDEL 45-bp), which were genotyped in PCR, followed by an analysis of the fragments, in which we applied a previously developed set of informative ancestral markers. We used a logistic regression model to identify differences in the allele and the genotypic frequencies among individuals and their association with NSCLC. The variables of gender, age, and smoking were controlled in the multivariate analysis to prevent confusion by association. The individuals that were homozygous for the Del/Del of polymorphism NFKB1 (rs28362491) (p = 0.018; OR = 0.332) demonstrate a significant association with NSCLC, which was similar to that observed in the variants of PAR1 (rs11267092) (p = 0.023; OR = 0.471) and TP53 (rs17878362) (p = 0.041; OR = 0.510). Moreover, the individuals with the Ins/Ins genotype of polymorphism IL-1A (rs3783553) demonstrated greater risk for NSCLC (p = 0.033; OR = 2.002), as did the volunteers with the Del/Del of UCP2 (INDEL 45-bp) (p = 0.031; OR = 2.031). The five polymorphisms investigated can contribute towards NSCLC susceptibility in the population of the Brazilian Amazon.


Assuntos
Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Subunidade p50 de NF-kappa B , Receptor PAR-1 , Proteína Supressora de Tumor p53 , Proteína Desacopladora 2 , Humanos , Brasil/epidemiologia , Subunidade p50 de NF-kappa B/genética , Polimorfismo Genético , Receptor PAR-1/genética , Proteína Supressora de Tumor p53/genética
20.
Acta ortop. bras ; 31(2): e264848, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1439135

RESUMO

ABSTRACT Objective: To evaluate the citation of the ligament in the magnetic resonance imaging (MRI) reports and confirm its presence and injury in the images of exams performed in the acute phase retrospectively. Methods: In total, 103 patients who underwent anterior cruciate ligament (ACL) reconstruction in 2019 were included. The images were reanalyzed by two radiologists. Results: In the first analysis, only one report mentioned the anterolateral ligament (ALL) and its injury (0.97%). On reanalysis, ALL was visualized in almost all cases (95% and 97%). An injury was found in 53 (51.5%) cases by radiologist A and in 56 (54.4%) cases by radiologist B. The injury was diagnosed by both in 39 (37.9%) cases (p < 0.0001). Radiologists disagreed regarding the injury (Kappa = 0.411). Conclusion: The reports failed to describe the ligament and diagnose a significant number of injuries. The analysis of conventional resonance images still presents divergences in the diagnosis of ALL injury associated with the ACL among radiologists. Level of Evidence IV, Case Series.


RESUMO Objetivo: Avaliar, de forma retrospectiva, a citação do ligamento anterolateral (LAL) em laudos de ressonância magnética (RM) e confirmar sua presença e lesão nas imagens de exames feitos na fase aguda. Métodos: Foram incluídos 103 pacientes submetidos à reconstrução do ligamento cruzado anterior (LCA) em 2019, cujas imagens foram reanalisadas por dois radiologistas. Resultados: Em primeira análise, apenas um laudo citava o LAL e sua lesão (0,97%); enquanto na reanálise, o LAL foi visualizado em quase todos os casos (95% pelo radiologista A e 97% pelo radiologista B). Foi encontrada lesão em 53 (51,5%) casos pelo radiologista A e 56 (54,4%) pelo radiologista B. Lesão foi diagnosticada por ambos em 39 (37,9%) casos (p < 0,0001). Houve divergência entre os radiologistas com relação à lesão (KappaL = 0,411). Conclusão: Os laudos deixaram de descrever o ligamento e diagnosticar um número significativo de lesões. A análise das imagens convencionais de ressonância ainda gera divergências no diagnóstico da lesão do LAL associada ao LCA entre os radiologistas. Nível de Evidência IV, Série de Casos.

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