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1.
Article in English | MEDLINE | ID: mdl-38538035

ABSTRACT

OBJECTIVES: The aim of this study is to evaluate pain management adequacy based on the Pain Management Index (PMI), and its association with the Brief Pain Inventory (BPI) in advanced cancer inpatients to a palliative care unit. METHODS: This is a quantitative study concerning advanced cancer inpatients in a specialised palliative care unit between June 2021 and February 2022. The BPI was applied, and analgesia was observed on the first (D1), third (D3) and seventh (D7) day of hospitalisation. Adequate analgesia was considered when PMI≥0. RESULTS: A total of 104 patients were evaluated on D1, 68 on D3 and 45 on D7, with a mean age of 53.6 years (SD±14.1), most of them female (65.4%), with the most frequent primary tumour site located in the gastrointestinal tract (22.1%). The observed analgesia was adequate (PMI≥0) in 52.9% of all patients on D1, 95.6% on D3 and 100% on D7 (p value=0.012). The number of patients with moderate to severe pain interference in general activities (p value 0.012), mood (p value 0.014), walking ability (p value 0.047), normal work (p value 0.038) and pleasure of living (p value 0.025) decreased during hospitalisation. CONCLUSIONS: Pain is a prevalent and impacting symptom in patients undergoing palliative care. Thus, objective analgesic adequacy assessments in specialised services are required. These findings reinforce the importance of effective pain control and corroborate the importance of employing objective tools in evaluating medical services and improving quality of life of patients.

2.
Int Arch Otorhinolaryngol ; 28(1): e50-e56, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38322436

ABSTRACT

Introduction Turner syndrome (TS) affects ∼ 1 in 2,500 live births. The presence of hearing alterations is one of the comorbidities found in this syndrome. Objective The present study aimed to evaluate the central auditory abilities in TS and to associate the alterations found with the cytogenetic pattern of the syndrome. Methods We included children and adults aged 9 to 39 years old, diagnosed with TS, with numerical or structural alterations of sex chromosomes in their karyotype. A battery of behavioral tests of central auditory processing (CAP) was performed, including a test within the modalities: monoaural low-redundancy, dichotic listening, binaural interaction, and temporal processing (resolution and ordering). We studied auditory skills in the total sample and in the sample stratified by age, divided into groups: G1 (9 to 13 years old), G2 (14 to 19 years old), and G3 (20 to 31 years old). For the association of the cytogenetic pattern, the division was T1 (chromosome monosomy X), and T2 (other TS cytogenetic patterns). Statistical analysis presented data expressed as median and interquartile range for numerical data and as frequency and percentage for categorical data. Results We found alterations in four auditory skills in the three age groups, but there was a statistically significant difference between the age groups only in the Gaps in Noise Test (GIN) ( p -value = 0.009). Regarding karyotype, a greater number of alterations in the T1 cytogenetic pattern (chromosome monosomy X) was observed in four auditory skills, but without a statistically significant difference. Conclusion The alterations found point to an impairment in CAP in TS.

3.
Int. arch. otorhinolaryngol. (Impr.) ; 28(1): 50-56, 2024. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1558002

ABSTRACT

Abstract Introduction Turner syndrome (TS) affects ~ 1 in 2,500 live births. The presence of hearing alterations is one of the comorbidities found in this syndrome. Objective The present study aimed to evaluate the central auditory abilities in TS and to associate the alterations found with the cytogenetic pattern of the syndrome. Methods We included children and adults aged 9 to 39 years old, diagnosed with TS, with numerical or structural alterations of sex chromosomes in their karyotype. A battery of behavioral tests of central auditory processing (CAP) was performed, including a test within the modalities: monoaural low-redundancy, dichotic listening, binaural interaction, and temporal processing (resolution and ordering). We studied auditory skills in the total sample and in the sample stratified by age, divided into groups: G1 (9 to 13 years old), G2 (14 to 19 years old), and G3 (20 to 31 years old). For the association of the cytogenetic pattern, the division was T1 (chromosome monosomy X), and T2 (other TS cytogenetic patterns). Statistical analysis presented data expressed as median and interquartile range for numerical data and as frequency and percentage for categorical data. Results We found alterations in four auditory skills in the three age groups, but there was a statistically significant difference between the age groups only in the Gaps in Noise Test (GIN) (p-value = 0.009). Regarding karyotype, a greater number of alterations in the T1 cytogenetic pattern (chromosome monosomy X) was observed in four auditory skills, but without a statistically significant difference. Conclusion The alterations found point to an impairment in CAP in TS.

4.
Geohealth ; 7(10): e2023GH000802, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37811341

ABSTRACT

This study analyzed fire-pollutant-meteorological variables and their impact on cardio-respiratory mortality in Portugal during wildfire season. Data of burned area, particulate matter with a diameter of 10 or 2.5 µm (µm) or less (PM10, PM2.5), carbon monoxide (CO), nitrogen dioxide (NO2), ozone (O3), temperature, relative humidity, wind speed, aerosol optical depth and mortality rates of Circulatory System Disease (CSD), Respiratory System Disease (RSD), Pneumonia (PNEU), Chronic Obstructive Pulmonary Disease, and Asthma (ASMA), were used. Only the months of 2011-2020 wildfire season (June-July-August-September-October) with a burned area greater than 1,000 ha were considered. Principal component analysis was used on fire-pollutant-meteorological variables to create two indices called Pollutant-Burning Interaction (PBI) and Atmospheric-Pollutant Interaction (API). PBI was strongly correlated with the air pollutants and burned area while API was strongly correlated with temperature and relative humidity, and O3. Cluster analysis applied to PBI-API divided the data into two Clusters. Cluster 1 included colder and wetter months and higher NO2 concentration. Cluster 2 included warmer and dried months, and higher PM10, PM2.5, CO, and O3 concentrations. The clusters were subjected to Principal Component Linear Regression to better understand the relationship between mortality and PBI-API indices. Cluster 1 showed statistically significant (p-value < 0.05) correlation (r) between RSDxPBI (r RSD = 0.58) and PNEUxPBI (r PNEU = 0.67). Cluster 2 showed statistically significant correlations between RSDxPBI (r RSD = 0.48), PNEUxPBI (r PNEU = 0.47), COPDxPBI (r COPD = 0.45), CSDxAPI (r CSD = 0.70), RSDxAPI (r CSD = 0.71), PNEUxAPI (r PNEU = 0.49), and COPDxAPI (r PNEU = 0.62). Cluster 2 analysis indicates that the warmest, driest, and most polluted months of the wildfire season were associated with cardio-respiratory mortality.

5.
Am J Hosp Palliat Care ; : 10499091231195318, 2023 Aug 09.
Article in English | MEDLINE | ID: mdl-37559447

ABSTRACT

INTRODUCTION: Cancer pain is one of the most prevalent manageable symptoms in patients with advanced cancer, and it has a negative impact on quality of life (QoL). OBJECTIVE: The aim of this study is to examine the correlation between cancer pain and QoL in patients with advanced cancer who are hospitalized in a palliative care unit. METHODS: This study is a cross-sectional analysis of patients with advanced cancer who were hospitalized with cancer pain at a specialized palliative care unit between June 2021 and February 2022. Pain intensity and its impact on daily activities were assessed using the Brief Pain Inventory (BPI), while the European Organization for Research and Treatment of Cancer (EORTC) Quality of Life Questionnaire Core 15 PAL (QLQ-C15-PAL) was used to evaluate QoL. RESULTS: A total of 104 patients with cancer pain were included, with a mean age of 53.6 years (±14.1). Most of the patients were female (65.38%), and the most common primary tumor site was in the gastrointestinal tract (22.11%). The most frequently reported site of cancer pain was the abdomen (32.69%). The mean duration of cancer pain was 52.3 days (±6.2). The domains of QoL most strongly correlated with cancer pain were weakness (coefficient = .52, P < .001), nausea (coefficient = .36, P < .001), and the physical domain (coefficient = -.30, P < .001). CONCLUSION: Cancer pain is strongly correlated with a deterioration in QoL in patients with advanced cancer, and its management should be pursued as a strategy for optimizing QoL.

6.
Sensors (Basel) ; 23(14)2023 Jul 15.
Article in English | MEDLINE | ID: mdl-37514724

ABSTRACT

The rapid development of deep learning has brought novel methodologies for 3D object detection using LiDAR sensing technology. These improvements in precision and inference speed performances lead to notable high performance and real-time inference, which is especially important for self-driving purposes. However, the developments carried by these approaches overwhelm the research process in this area since new methods, technologies and software versions lead to different project necessities, specifications and requirements. Moreover, the improvements brought by the new methods may be due to improvements in newer versions of deep learning frameworks and not just the novelty and innovation of the model architecture. Thus, it has become crucial to create a framework with the same software versions, specifications and requirements that accommodate all these methodologies and allow for the easy introduction of new methods and models. A framework is proposed that abstracts the implementation, reusing and building of novel methods and models. The main idea is to facilitate the representation of state-of-the-art (SoA) approaches and simultaneously encourage the implementation of new approaches by reusing, improving and innovating modules in the proposed framework, which has the same software specifications to allow for a fair comparison. This makes it possible to determine if the key innovation approach outperforms the current SoA by comparing models in a framework with the same software specifications and requirements.

7.
Sensors (Basel) ; 22(8)2022 Apr 12.
Article in English | MEDLINE | ID: mdl-35458928

ABSTRACT

Due to a point cloud's sparse nature, a sparse convolution block design is necessary to deal with its particularities. Mechanisms adopted in computer vision have recently explored the advantages of data processing in more energy-efficient hardware, such as the FPGA, as a response to the need to run these algorithms on resource-constrained edge devices. However, implementing it in hardware has not been properly explored, resulting in a small number of studies aimed at analyzing the potential of sparse convolutions and their efficiency on resource-constrained hardware platforms. This article presents the design of a customizable hardware block for the voting convolution. We carried out an in-depth analysis to determine under which conditions the use of the voting scheme is justified instead of dense convolutions. The proposed hardware design achieves an energy consumption about 8.7 times lower than similar works in the literature by ignoring unnecessary arithmetic operations with null weights and leveraging data dependency. Access to data memory was also reduced to the minimum necessary, leading to improvements of around 55% in processing time. To evaluate both the performance and applicability of the proposed solution, the voting convolution was integrated into the well-known PointPillars model, where it achieves improvements between 23.05% and 80.44% without a significant effect on detection performance.


Subject(s)
Algorithms , Computers , Equipment Design , Politics
8.
Sensors (Basel) ; 22(6)2022 Mar 11.
Article in English | MEDLINE | ID: mdl-35336357

ABSTRACT

In recent years there has been an increase in the number of research and developments in deep learning solutions for object detection applied to driverless vehicles. This application benefited from the growing trend felt in innovative perception solutions, such as LiDAR sensors. Currently, this is the preferred device to accomplish those tasks in autonomous vehicles. There is a broad variety of research works on models based on point clouds, standing out for being efficient and robust in their intended tasks, but they are also characterized by requiring point cloud processing times greater than the minimum required, given the risky nature of the application. This research work aims to provide a design and implementation of a hardware IP optimized for computing convolutions, rectified linear unit (ReLU), padding, and max pooling. This engine was designed to enable the configuration of features such as varying the size of the feature map, filter size, stride, number of inputs, number of filters, and the number of hardware resources required for a specific convolution. Performance results show that by resorting to parallelism and quantization approach, the proposed solution could reduce the amount of logical FPGA resources by 40 to 50%, enhancing the processing time by 50% while maintaining the deep learning operation accuracy.


Subject(s)
Algorithms , Computers
9.
CoDAS ; 34(1): e20200300, 2022. tab, graf
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1345832

ABSTRACT

RESUMO Objetivo investigar o efeito inibitório da via auditiva eferente na síndrome de Turner e relacionar com o perfil citogenético. Método estudo descritivo transversal com grupo de comparação. Amostra: Grupo estudo formado por 40 pacientes com síndrome de Turner (17,6 anos); e Grupo controle constituído por 54 indivíduos (18,9 anos), do sexo feminino sem síndrome. Os indivíduos selecionados foram submetidos à pesquisa do efeito inibitório da via auditiva eferente. Resultados A média do Efeito inibitório da via auditiva eferente no grupo estudo na orelha direita foi 0,4 dB e no grupo comparação foi de 1,9 dB, entretanto na orelha esquerda a média do efeito inibitório da via auditiva eferente foi 1,4 dB no grupo estudo e 0,8 dB no grupo comparação. O efeito inibitório da via auditiva eferente foi presente em 14 indivíduos com monossomia e em 15 com outras alterações citogenéticas. Conclusão No grupo estudo o valor do efeito inibitório da via auditiva eferente foi significantemente maior na orelha esquerda e significativamente menor que o grupo controle na direita. Não houve diferença significativa no efeito inibitório da via auditiva eferente entre os tipos de cariótipo.


ABSTRACT Purpose The goal of this study is to investigate the efferent auditory pathways inhibition in Turner's syndrome and to relate it to the cytogenetic profile. Methods This is a cross-sectional study with a comparison group. A sample with 94 participants divided into two groups: The study group was a sample of 40 patients diagnosed with Turner's syndrome (17.6 years of age). The control group was composed of 54 volunteers (18.9 years of age), female, without syndrome. The selected individuals were submitted to efferent auditory pathways inhibition research. Results The mean of the inhibitory effect of the efferent auditory pathway in the study group in the right ear was 0.4 dB and in the comparison group it was 1.9 dB, however in the left ear the mean of the inhibitory effect of the efferent auditory pathway was 1.4 dB in the study group and 0.8 dB in the comparison group. The inhibitory effect of the efferent auditory pathway was present in 14 individuals with monosomy and in 15 with other cytogenetic alterations. Conclusions In the study group, the efferent auditory pathways inhibition value was significantly higher in the left ear and significantly lower than the control group in the right ear. There was no significant difference in efferent auditory pathways inhibition of right ear and left ear between the karyotype types.

10.
Sensors (Basel) ; 21(23)2021 Nov 28.
Article in English | MEDLINE | ID: mdl-34883937

ABSTRACT

Research about deep learning applied in object detection tasks in LiDAR data has been massively widespread in recent years, achieving notable developments, namely in improving precision and inference speed performances. These improvements have been facilitated by powerful GPU servers, taking advantage of their capacity to train the networks in reasonable periods and their parallel architecture that allows for high performance and real-time inference. However, these features are limited in autonomous driving due to space, power capacity, and inference time constraints, and onboard devices are not as powerful as their counterparts used for training. This paper investigates the use of a deep learning-based method in edge devices for onboard real-time inference that is power-effective and low in terms of space-constrained demand. A methodology is proposed for deploying high-end GPU-specific models in edge devices for onboard inference, consisting of a two-folder flow: study model hyperparameters' implications in meeting application requirements; and compression of the network for meeting the board resource limitations. A hybrid FPGA-CPU board is proposed as an effective onboard inference solution by comparing its performance in the KITTI dataset with computer performances. The achieved accuracy is comparable to the PC-based deep learning method with a plus that it is more effective for real-time inference, power limited and space-constrained purposes.


Subject(s)
Algorithms , Automobile Driving , Research Design
11.
Sensors (Basel) ; 21(24)2021 Dec 15.
Article in English | MEDLINE | ID: mdl-34960468

ABSTRACT

Recently released research about deep learning applications related to perception for autonomous driving focuses heavily on the usage of LiDAR point cloud data as input for the neural networks, highlighting the importance of LiDAR technology in the field of Autonomous Driving (AD). In this sense, a great percentage of the vehicle platforms used to create the datasets released for the development of these neural networks, as well as some AD commercial solutions available on the market, heavily invest in an array of sensors, including a large number of sensors as well as several sensor modalities. However, these costs create a barrier to entry for low-cost solutions for the performance of critical perception tasks such as Object Detection and SLAM. This paper explores current vehicle platforms and proposes a low-cost, LiDAR-based test vehicle platform capable of running critical perception tasks (Object Detection and SLAM) in real time. Additionally, we propose the creation of a deep learning-based inference model for Object Detection deployed in a resource-constrained device, as well as a graph-based SLAM implementation, providing important considerations, explored while taking into account the real-time processing requirement and presenting relevant results demonstrating the usability of the developed work in the context of the proposed low-cost platform.


Subject(s)
Algorithms , Automobile Driving , Neural Networks, Computer
12.
Codas ; 34(1): e20200300, 2021.
Article in Portuguese, English | MEDLINE | ID: mdl-34730665

ABSTRACT

PURPOSE: The goal of this study is to investigate the efferent auditory pathways inhibition in Turner's syndrome and to relate it to the cytogenetic profile. METHODS: This is a cross-sectional study with a comparison group. A sample with 94 participants divided into two groups: The study group was a sample of 40 patients diagnosed with Turner's syndrome (17.6 years of age). The control group was composed of 54 volunteers (18.9 years of age), female, without syndrome. The selected individuals were submitted to efferent auditory pathways inhibition research. RESULTS: The mean of the inhibitory effect of the efferent auditory pathway in the study group in the right ear was 0.4 dB and in the comparison group it was 1.9 dB, however in the left ear the mean of the inhibitory effect of the efferent auditory pathway was 1.4 dB in the study group and 0.8 dB in the comparison group. The inhibitory effect of the efferent auditory pathway was present in 14 individuals with monosomy and in 15 with other cytogenetic alterations. CONCLUSIONS: In the study group, the efferent auditory pathways inhibition value was significantly higher in the left ear and significantly lower than the control group in the right ear. There was no significant difference in efferent auditory pathways inhibition of right ear and left ear between the karyotype types.


OBJETIVO: investigar o efeito inibitório da via auditiva eferente na síndrome de Turner e relacionar com o perfil citogenético. MÉTODO: estudo descritivo transversal com grupo de comparação. Amostra: Grupo estudo formado por 40 pacientes com síndrome de Turner (17,6 anos); e Grupo controle constituído por 54 indivíduos (18,9 anos), do sexo feminino sem síndrome. Os indivíduos selecionados foram submetidos à pesquisa do efeito inibitório da via auditiva eferente. RESULTADOS: A média do Efeito inibitório da via auditiva eferente no grupo estudo na orelha direita foi 0,4 dB e no grupo comparação foi de 1,9 dB, entretanto na orelha esquerda a média do efeito inibitório da via auditiva eferente foi 1,4 dB no grupo estudo e 0,8 dB no grupo comparação. O efeito inibitório da via auditiva eferente foi presente em 14 indivíduos com monossomia e em 15 com outras alterações citogenéticas. CONCLUSÃO: No grupo estudo o valor do efeito inibitório da via auditiva eferente foi significantemente maior na orelha esquerda e significativamente menor que o grupo controle na direita. Não houve diferença significativa no efeito inibitório da via auditiva eferente entre os tipos de cariótipo.


Subject(s)
Auditory Pathways , Turner Syndrome , Cross-Sectional Studies , Efferent Pathways , Female , Humans
13.
Braz. j. otorhinolaryngol. (Impr.) ; 87(6): 728-732, Nov.-Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1350349

ABSTRACT

Abstract Introduction: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. Objective: To associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. Methods: Cross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. Results: Of the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8 kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. Conclusion: The cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.


Resumo Introdução: A síndrome de Turner é uma alteração frequente e genética que acomete indivíduos do sexo feminino e abrange grande variabilidade fenotípica. A literatura científica sugere uma relação entre perda auditiva e síndrome de Turner, porém ainda é um tema controverso. Objetivo: Relacionar a alteração citogenética com o perfil audiométrico de indivíduos com síndrome de Turner. Método: Estudo transversal, com amostra de conveniência, de base hospitalar. Foram incluídas pacientes com diagnóstico de síndrome de Turner e excluídas as com dificuldade para compreender a audiometria e/ou outras síndromes associadas. As participantes foram submetidas à audiometria tonal. Resultados: Das 65 pacientes incluídas, 36,9% apresentaram monossomia do cromossomo X e 63,0%, outras alterações. Com relação à audiometria, 64,6% apresentaram limiares dentro da normalidade e 35,3% alteração auditiva. Dessas, 30,4% apresentaram perda auditiva híbrida, 26,0% alteração em 6 e/ou 8 KHz; 17,3% perda auditiva condutiva, 13,0% perda neurossensorial e 13,0% perda auditiva mista. Observamos que o grau leve foi o mais frequente. Não foi observada associação estatiscamente significativa entre o tipo citogenético da síndrome de Turner e a presença ou não perda auditiva, ou com o tipo e grau de perda auditiva. Conclusão: A alteração citogenética na síndrome de Turner não teve associação com o perfil audiométrico, o qual apresentou variabilidade quanto ao tipo e grau da perda auditiva.


Subject(s)
Humans , Female , Turner Syndrome/complications , Turner Syndrome/genetics , Hearing Loss/diagnosis , Hearing Loss/genetics , Hearing Loss, Sensorineural , Audiometry, Pure-Tone , Cross-Sectional Studies , Cytogenetic Analysis
14.
Recent Pat Biotechnol ; 15(3): 169-183, 2021.
Article in English | MEDLINE | ID: mdl-34353276

ABSTRACT

Extremophilic microorganisms from a wide variety of extreme natural environments have been researched, and many biotechnological applications have been carried out, due to their capacity to produce biomolecules resistant to extreme conditions, such as fibrinolytic proteases. The search for new fibrinolytic enzymes is important in the development of new therapies against cardiovascular diseases. This article aimed to evaluate the patents filed about protease with fibrinolytic activity produced by extremophilic microorganisms whose use is aimed at the development of new drugs for the treatment of cardiovascular diseases. The prospecting was carried out using data on deposits and patent concessions made available on the technological bases: European Patent Office (EPO), United States Patent and Trademark Office (USPTO), World Intellectual Property Organization (WIPO), Instituto Nacional de Propriedade Industrial - Brazil (INPI), The LENS and Patent Inspiration. The International Patent Classification and subclasses and groups for each document were also evaluated. Although 382 patents were selected using terms related to extreme environments, such as "thermophile" and "acidophiles", few were related to clinical use and were mainly performed using Bacillus subtilis and Streptomyces megasporus strains. A highlight of nattokinase was produced by Bacillus subtilis GDN and actinokinase by Streptomyces megasporus SD5. The low number of patents on enzymes with this profile (extreme environments) revealed a little-explored field, promising in the development of new microbial thrombolytic drugs, such as fibrinolytic enzymes with less adverse effects.


Subject(s)
Extremophiles , Biotechnology , Intellectual Property , Patents as Topic , Thrombolytic Therapy , United States
15.
Mol Cell Endocrinol ; 526: 111214, 2021 04 15.
Article in English | MEDLINE | ID: mdl-33610641

ABSTRACT

Clock genes work as an auto-regulated transcription-translational loop of circadian genes that drives the circadian rhythms in each cell and they are essential to physiological requests. Since metabolism is a dynamic process, it involves several physiological variables that circadian cycling. The clock genes alterations can affect multiple systems concomitantly, because they constitute the promoter factors for relevant metabolic pathways. Considering the intertwined structure of signaling, regulatory, and metabolic processes within a cell, we employed a genome-scale biomolecular network. Accordingly, a meta-analysis of diabetic-associated transcriptomic datasets was performed, and the core information on differentially expressed genes (DEGs) was obtained by statistical analyses. In the current study, meta-analysis was performed on type 2 diabetes, circadian rhythm-related genes, and breast, bladder, liver, pancreas, colon and rectum cancer-associated transcriptome data using the integration of gene expression profiles with genome-scale biomolecular networks in diabetes samples. First, we detected downregulated and upregulated DEGs in mouse cortex and hypothalamus samples of mice with sleep deprivation. In summary, upregulated genes active genes associated with oxidative phosphorylation, cancer and diabetes, mainly in hypothalamus specimens. In cortex, we observed mainly downregulation of immune system. DEGs were combined with 214 circadian rhythm related genes to type 2 DM and cancer samples. We observed that several common genes deregulated in both diseases. Klf10, Ntkr3, Igf1, Usp2, Ezh2 were both downregulated in type 2 DM and cancer samples, while Arntl2 and Agrp were upregulated. It seems that the changes in mRNA are contributing to the phenotypic changes in type 2 DM, resulting in phenotypic changes associated with the malignant transformation. Taking those genes to perform a survival analysis, we found only Igf1, Usp2 and Arntl2 genes associated with patient outcomes. While Igf1 and Usp2 downregulation had a negative impact, Arntl2 upregulation was associated with poor survival both in BLCA and BRCA cancer samples. Our data stimulate efforts in news studies to achieve the experimental and clinical validation about these biomolecules.


Subject(s)
Circadian Rhythm/genetics , Diabetes Mellitus, Type 2/genetics , Neoplasms/genetics , Transcriptome/genetics , Animals , Down-Regulation/genetics , Female , Gene Expression Profiling , Gene Ontology , Humans , Male , Mice , RNA, Messenger/genetics , RNA, Messenger/metabolism , Up-Regulation/genetics
16.
Braz J Otorhinolaryngol ; 87(6): 728-732, 2021.
Article in English | MEDLINE | ID: mdl-32402566

ABSTRACT

INTRODUCTION: Turner syndrome is a frequent genetic disorder that affects female individuals and covers a large phenotypic variability. Scientific literature suggests an association between hearing loss and Turner syndrome, but it remains a controversial topic. OBJECTIVE: To associate the cytogenetic alteration with the audiometric profile of individuals with Turner syndrome. METHODS: Cross-sectional study, with a hospital-based, convenience sample. Patients diagnosed with Turner syndrome were included and those with difficulty understanding the audiometry and/or other associated syndromes were excluded. The participants were studied with pure tone audiometry. RESULTS: Of the 65 patients included, 36.9% had X chromosome monosomy and 63.0% had other alterations. Regarding the audiometry, 64.6% had normal thresholds and 35.3% had hearing impairment. Of these, 30.4% had hybrid hearing loss, 26.0% alteration at 6 and/or 8kHz, 17.3% had conductive hearing loss, 13.0% sensorineural loss and 13.0% had mixed hearing loss. We observed that the mild degree was the most frequent one. There was no statistically significant association between the cytogenetic type of Turner syndrome and the presence or absence of hearing loss, or with the type and degree of hearing loss. CONCLUSION: The cytogenetic alteration in Turner syndrome was not associated with the audiometric profile, which showed variability regarding the type and degree of hearing loss.


Subject(s)
Hearing Loss, Sensorineural , Hearing Loss , Turner Syndrome , Audiometry, Pure-Tone , Cross-Sectional Studies , Cytogenetic Analysis , Female , Hearing Loss/diagnosis , Hearing Loss/genetics , Humans , Turner Syndrome/complications , Turner Syndrome/genetics
17.
Enferm. foco (Brasília) ; 11(5): 61-66, dez. 2020. ilus, tab
Article in Portuguese | LILACS, BDENF - Nursing | ID: biblio-1177117

ABSTRACT

Objetivo: O presente estudo teve como objetivo analisar o que vem sendo publicado sobre Responsabilidade Técnica em Enfermagem. Métodos: Trata-se de uma revisão integrativa realizada nas bases de dados: Portal de Periódicos da Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), Public Medline (PubMed), Literatura Latino-americana e do Caribe em Ciências da Saúde (LILACS) e Scientific Eletronic Library Online (Scielo), no período de janeiro a março de 2020 utilizando os descritores "Responsabilidade Técnica" e "Enfermagem" e seus correspondentes em inglês, na qual foram selecionados 11 artigos, todos em português, sem recorte temporal. Resultados: o registro da Anotação de Responsabilidade Técnica em Enfermagem, assim como em outras profissões, constitui um importante atributo para qualidade no exercício profissional, necessita ter seus conceitos e atribuições difundidos e ser mais estudada no contexto cientifico. Conclusão: para a realização desta pesquisa sobre a Responsabilidade Técnica em Enfermagem foi encontrado um número restrito de publicações, com baixos níveis de evidência científica, em sua maioria, faziam referência à responsabilidade sem vínculo ao Conselho de Enfermagem, o que demostra a necessidade da ampliação de estudos sobre o tema para que os conceitos e implicações do exercício da Responsabilidade Técnica em Enfermagem, nos serviços de saúde, sejam melhor esclarecidos. (AU)


Objective: The present study had analyze what has been published about Technical Responsibility in Nursing. Methods: This is an integrative review carried out in the databases: Periodical Portal of the Coordination for the Improvement of Higher Level Personnel (CAPES), Public Medline (PubMed), Latin American and Caribbean Literature in Health Sciences (LILACS) and Scientific Electronic Library Online (Scielo), from January to March 2020 using the descriptors "Technical Responsibility" and "Nursing" and their correspondents in English, in which 11 articles were selected, all in Portuguese, without temporal cut-off. Results: the register of the Technical Responsibility in Nursing, as well as in other professions, constitutes an important attribute for quality in the professional exercise, needs to have its concepts and attributions diffused and to be more studied in the scientific context. Conclusion: in order to carry out this research on Technical Responsibility in Nursing, a limited number of publications were found, eith low levels of scientific evidence, mostly referring to responsibility without a link to the Nursing Council, which demonstrates the need to expand studies. On the subject so that the concepts and implications of the exercise of Technocal Responsibility in Nursing in health services are better clarified. (AU)


Objetivo: El presente estudio tuvo como objetivo analizar lo publicado sobre Responsabilidad Técnica en Enfermería. Método: Se trata de una revisión integradora realizada en las bases de datos: Portal de Periódicos de la Coordinación para el Perfeccionamiento del Personal de Nivel Superior (CAPES), Public Medline (PubMed), Literatura Latinoamericana y del Caribe en Ciencias de la Salud (LILACS) y Scientific Electronic Library Online (Scielo), de enero a marzo de 2020 utilizando los descriptores "Technical Responsibility" y "Nursing" y sus corresponsales en inglés, en los que se seleccionaron 11 artículos, todos en portugués, sin reducción de tiempo. Resultados: el registro de la Responsabilidad Técnica en Enfermería, así como en otras profesiones, constituye un atributo importante para la calidad en la práctica profesional, necesita que sus conceptos y atribuciones sean difundidos y profundizados em el contexto científico. Conclusión: para realizar esta investigación sobre Responsabilidad Técnica em Enfermería se encontró um número limitado de publicaciones, com bajos niveles de evidencia científica, mayoritariamente referidas a responsabilidade sin vinculación al Consejo de Enfermería, lo que demuestra la necesidad de ampliar los estúdios sobre el tema para que se aclaren mejor los conceptos e implicaciones del ejercicio de la Responsabilidad Técnica em Enfermería em los servicios de salud. (AU)


Subject(s)
Technical Responsibility , Organization and Administration , Nursing , Ethics
19.
Mol Cell Endocrinol ; 493: 110455, 2019 08 01.
Article in English | MEDLINE | ID: mdl-31145933

ABSTRACT

Although studies have provided significant evidence about the role of RAS in mediating cancer risk in type 2 diabetes mellitus (DM), conclusions about the central molecular mechanisms underlying this disease remain to be reached, because this type of information requires an integrative multi-omics approach. In the current study, meta-analysis was performed on type 2 diabetes and breast, bladder, liver, pancreas, colon and rectum cancer-associated transcriptome data, and reporter biomolecules were identified at RNA, protein, and metabolite levels using the integration of gene expression profiles with genome-scale biomolecular networks in diabetes samples. This approach revealed that RAS biomarkers could be associated with cancer initiation and progression, which include metabolites (particularly, aminoacyl-tRNA biosynthesis and ABC transporters) as novel biomarker candidates and potential therapeutic targets. We detected downregulation and upregulation of differentially expressed genes (DEGs) in blood, pancreatic islets, liver and skeletal muscle from normal and diabetic patients. DEGs were combined with 211 renin-angiotensin-system related genes. Upregulated genes were enriched using Pathway analysis of cancer in pancreatic islets, blood and skeletal muscle samples. It seems that the changes in mRNA are contributing to the phenotypic changes in carcinogenesis, or that they are as a result of the phenotypic changes associated with the malignant transformation. Our analyses showed that Ctsg and Ednrb are downregulated in cancer samples. However, by immunohistochemistry experiments we observed that EDNRB protein showed increased expression in tumor samples. It is true that alterations in mRNA expression do not always reflect alterations in protein expression, since post-translational changes can occur in proteins. In this study, we report valuable data for further experimental and clinical analysis, because the proposed biomolecules have significant potential as systems biomarkers for screening or for therapeutic purposes in type 2 diabetes and cancer-associated pathways.


Subject(s)
Diabetes Mellitus, Type 2/genetics , Gene Expression Profiling/methods , Neoplasms/genetics , Renin-Angiotensin System , Cathepsin G/genetics , Cathepsin G/metabolism , Diabetes Mellitus, Type 2/metabolism , Female , Gene Expression Regulation , Gene Regulatory Networks , Humans , Meta-Analysis as Topic , Metabolomics , Neoplasms/metabolism , Organ Specificity , Protein Interaction Maps , Proteomics , Receptor, Endothelin B/genetics , Receptor, Endothelin B/metabolism
20.
Essays Biochem ; 63(1): 29-43, 2019 04 23.
Article in English | MEDLINE | ID: mdl-31015382

ABSTRACT

Nucleosomes represent the fundamental repeating unit of eukaryotic DNA, and comprise eight core histones around which DNA is wrapped in nearly two superhelical turns. Histones do not have the intrinsic ability to form nucleosomes; rather, they require an extensive repertoire of interacting proteins collectively known as 'histone chaperones'. At a fundamental level, it is believed that histone chaperones guide the assembly of nucleosomes through preventing non-productive charge-based aggregates between the basic histones and acidic cellular components. At a broader level, histone chaperones influence almost all aspects of chromatin biology, regulating histone supply and demand, governing histone variant deposition, maintaining functional chromatin domains and being co-factors for histone post-translational modifications, to name a few. In this essay we review recent structural insights into histone-chaperone interactions, explore evidence for the existence of a histone chaperoning 'pathway' and reconcile how such histone-chaperone interactions may function thermodynamically to assemble nucleosomes and maintain chromatin homeostasis.


Subject(s)
DNA/metabolism , Histone Chaperones/metabolism , Histones/metabolism , Nucleosomes/metabolism , Ribosomes/metabolism , Animals , Humans
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