bluuebunny/crossref_metadata_2025_split huggingface dataset:
A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review
Authors: Zhao Cong , Peng Hua , Jiang Nanchuan , Liu Yalan , Chen Yan , Liu Jie , Guo Qing , Wu Zubo , Wang Lin 
Published: April 2023

IntroductionMalonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.MethodsWe collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We use the search term “Malonyl-CoA Decarboxylase Deficiency” on Pubmed to collect cases reported.ResultsWe report a 3-year-old girl who is presented with developmental retardation, myocardial damage and elevated C3DC. High-throughput sequencing identified heterozygous mutation (c.798G&gt;A, p.Q266?) in the patient inherited from her father. The other heterozygous mutation (c.641+5G&gt;C) was found in the patient inherited from her mother. RNA-seq showed that there were 254 differential genes in this child, among which 153 genes were up-regulated and 101 genes were down-regulated. Exon jumping events occurred in exons encoding PRMT2 on the positive chain of chromosome 21, which led to abnormal splicing of PRMT2. (P&lt;0.05, FDR&lt;0.05). The result of SNP showed that there were multiple mutation sites on chromosome 1, which may affect the downstream gene variation at the DNA level. The literature review identified 54 cases described since 1984.DiscussionIt is the first report about the locus, adding a new item to the MLYCD mutation library. Developmental retardation and cardiomyopathy are the most common clinical manifestations, with commonly elevated malonate and malonyl carnitine levels in children.
Duration of delayed diagnosis in HIV/AIDS patients in Iran: a CD4 depletion model analysis
Authors: Sharafi Mehdi , Mirahmadizadeh Alireza , Hassanzadeh Jafar , Seif Mozhgan , Heiran Alireza 
Published: April 2023

ObjectiveDelayed diagnosis of HIV can lead to an inappropriate response to antiretroviral therapy (ART), rapid progression of the disease, and death. It can also carry harmful effects on public health due to the increment of transmission. This study aimed to estimate the duration of delayed diagnosis (DDD) in HIV patients in Iran.MethodsThis hybrid cross-sectional cohort study was conducted on the national HIV surveillance system database (HSSD). Linear mixed effect models with random intercept, random slope, and both were used to estimate the parameters required for the CD4 depletion model to determine the best-fitted model for DDD, stratified by the route of transmission, gender, and age group.ResultsThe DDD was estimated in 11,373 patients including 4,762 (41.87%) injection drug users (IDUs), 512 (4.5%) men who had sexual contact with men (MSM), 3,762 (33.08%) patients with heterosexual contacts, and 2,337 (20.55%) patients who were infected through other routes of HIV transmission. The total mean DDD was 8.41 ± 5.97 years. The mean DDD was 7.24 ± 0.08 and 9.43 ± 6.83 years in male and female IDUs, respectively. In the heterosexual contact group, DDD was obtained as 8.60 ± 6.43 years in male patients and 9.49 ± 7.17 years in female patients. It was also estimated as 9.37 ± 7.30 years in the MSM group. Furthermore, patients infected through other transmission routes were found with a DDD of 7.90 ± 6.74 years for male patients and a DDD of 7.87 ± 5.87 years for female patients.ConclusionA simple CD4 depletion model analysis is represented, which incorporates a pre-estimation step to determine the best-fitted linear mixed model for calculating the parameters required for the CD4 depletion model. Considering such a noticeably high HIV diagnostic delay, especially in older adults, MSM, and heterosexual contact groups, regular periodic screening is required to reduce the DDD.
An explorative study on respiratory health among operators working in polymer additive manufacturing
Authors: Almstrand Ann-Charlotte , Bredberg Anna , Runström Eden Gunilla , Karlsson Helen , Assenhöj Maria , Koca Hatice , Olin Anna-Carin , Tinnerberg Håkan 
Published: April 2023

Additive manufacturing (AM), or 3D printing, is a growing industry involving a wide range of different techniques and materials. The potential toxicological effects of emissions produced in the process, involving both ultrafine particles and volatile organic compounds (VOCs), are unclear, and there are concerns regarding possible health implications among AM operators.The objective of this study was to screen the presence of respiratory health effects among people working with liquid, powdered, or filament plastic materials in AM.MethodsIn total, 18 subjects working with different additive manufacturing techniques and production of filament with polymer feedstock and 20 controls participated in the study. Study subjects filled out a questionnaire and underwent blood and urine sampling, spirometry, impulse oscillometry (IOS), exhaled NO test (FeNO), and collection of particles in exhaled air (PEx), and the exposure was assessed. Analysis of exhaled particles included lung surfactant components such as surfactant protein A (SP-A) and phosphatidylcholines. SP-A and albumin were determined using ELISA. Using reversed-phase liquid chromatography and targeted mass spectrometry, the relative abundance of 15 species of phosphatidylcholine (PC) was determined in exhaled particles. The results were evaluated by univariate and multivariate statistical analyses (principal component analysis).ResultsExposure and emission measurements in AM settings revealed a large variation in particle and VOC concentrations as well as the composition of VOCs, depending on the AM technique and feedstock. Levels of FeNO, IOS, and spirometry parameters were within clinical reference values for all AM operators. There was a difference in the relative abundance of saturated, notably dipalmitoylphosphatidylcholine (PC16:0_16:0), and unsaturated lung surfactant lipids in exhaled particles between controls and AM operators.ConclusionThere were no statistically significant differences between AM operators and controls for the different health examinations, which may be due to the low number of participants. However, the observed difference in the PC lipid profile in exhaled particles indicates a possible impact of the exposure and could be used as possible early biomarkers of adverse effects in the airways.
Factors associated with sleep disorders among adolescent students in rural areas of China
Authors: Li Dan-Lin , Nie Xin-Yi , Li Jun , Tao Yi-Jin , Zhao Chun-Hua , Zhong Hua , Pan Chen-Wei 
Published: April 2023

BackgroundThis study aimed to determine sleep patterns and the prevalence and association factors of sleep disorders in a regionally representative sample in Mo Jiang, China.MethodsA total of 2,346 (participation rate 93.5%) Grade 7 students (aged 13–14 years) from 10 middle schools, including 1,213 (51.7%) boys and 1,133 (48.3%) girls, participated in the study. All the participants were invited to complete questionnaires that acquired information on sleep patterns, academic performance, academic stress, and sociodemographic factors. Sleep disorders were assessed using the Chinese version of the Children’s Sleep Habits Questionnaire. Logistic regression models were used to investigate factors associated with sleep disorders.ResultsThe prevalence of sleep disorders among rural adolescents was 76.4%, which is higher than that among urban adolescents. Compared with previous findings in urban areas, our results indicate that sleep loss is much more severe in rural adolescents. Sleep disorders were positively associated with factors, such as watching TV [odds ratio (OR) = 1.22, p = 0.001], academic performance (OR = 1.80, p &lt; 0.001), and academic stress (OR = 1.38, p = 0.04). In addition, girls were more likely to suffer from sleep disorders than boys (OR = 1.36, p = 0.01).ConclusionInsufficient sleep and sleep disorders have become common health problems in rural Chinese adolescents.
Bicycle use in Latin American cities: changes over time by socio-economic position
Authors: Avila-Palencia Ione , Sarmiento Olga L. , Gouveia Nelson , Jáuregui Alejandra , Mascolli Maria A. , Slovic Anne D. , Rodríguez Daniel A. 
Published: April 2023

IntroductionWe aimed to examine utilitarian bicycle use among adults from 18 large Latin American cities and its association with socio-economic position (education and income) between 2008 and 2018.MethodsData came from yearly cross-sectional surveys collected by the Development Bank of Latin America (CAF). A total of 77,765 survey respondents with complete data were used to estimate multilevel logistic regression models with city as random intercept and year as random slope.ResultsIndividuals with high education and high-income levels had lower odds of using a bicycle compared with participants with lower education and income levels. These associations, however, changed over time with the odds of bicycle use increasing for all groups, especially among individuals with the highest education and income levels.DiscussionOur results confirm the broadening appeal of bicycling across socio-economic positions in several Latin American cities and reinforce the importance of considering policies aimed at supporting and enhancing bicycle travel for all users.
Improvement of HEK293 Cell Growth by Adapting Hydrodynamic Stress and Predicting Cell Aggregate Size Distribution
Authors: Seidel Stefan , Maschke Rüdiger W. , Mozaffari Fruhar , Eibl-Schindler Regine , Eibl Dieter 
Published: April 2023

HEK293 is a widely used cell line in the fields of research and industry. It is assumed that these cells are sensitive to hydrodynamic stress. The aim of this research was to use particle image velocimetry validated computational fluid dynamics (CFD) to determine the hydrodynamic stress in both shake flasks, with and without baffles, and in stirred Minifors 2 bioreactors to evaluate its effect on the growth and aggregate size distribution of HEK293 suspension cells. The HEK FreeStyleTM 293-F cell line was cultivated in batch mode at different specific power inputs (from 63 W m−3 to 451 W m−3), whereby ≈60 W m−3 corresponds to the upper limit, which is what has been typically described in published experiments. In addition to the specific growth rate and maximum viable cell density VCDmax, the cell size distribution over time and cluster size distribution were investigated. The VCDmax of (5.77±0.02)·106cellsmL−1 was reached at a specific power input of 233 W m−3 and was 23.8% higher than the value obtained at 63 W m−3 and 7.2% higher than the value obtained at 451 W m−3. No significant change in the cell size distribution could be measured in the investigated range. It was shown that the cell cluster size distribution follows a strict geometric distribution whose free parameter p is linearly dependent on the mean Kolmogorov length scale. Based on the performed experiments, it has been shown that by using CFD-characterised bioreactors, the VCDmax can be increased and the cell aggregate rate can be precisely controlled.
The Complexity of Burnout Experiences among Care Aides: A Person-Oriented Approach to Burnout Patterns
Authors: Duan Yinfei , Song Yuting , Thorne Trina E. , Iaconi Alba , Norton Peter G. , Estabrooks Carole A. 
Published: April 2023

Care aides working in nursing homes experience burnout attributed to various workplace stressors. Burnout dimensions (exhaustion, cynicism, and reduced professional efficacy) interact to form distinct burnout patterns. Using a person-oriented approach, we aimed to identify burnout patterns among care aides and to examine their association with individual and job-related factors. This was a cross-sectional, secondary analysis of the Translating Research in Elder Care 2019–2020 survey data collected from 3765 care aides working in Canadian nursing homes. We used Maslach Burnout Inventory to assess burnout and performed latent profile analysis to identify burnout patterns, then examined their associations with other factors. We identified an engaged pattern (43.2% of the care aide sample) with low exhaustion and cynicism and high professional efficacy; an overwhelmed but accomplished pattern (38.5%) with high levels of the three dimensions; two intermediate patterns—a tired and ineffective pattern (2.4%) and a tired but effective pattern (15.8%). The engaged group reported the most favorable scores on work environment, work-life experiences, and health, whereas the tired and ineffective group reported the least favorable scores. The findings suggest complex experiences of burnout among care aides and call for tailored interventions to distinct burnout patterns.
Huellas francesas en el Tenerife del siglo XVIII : las gramáticas y los diccionarios del legado de Nava
Authors: del Carmen Marrero Maria 
Published: April 2023

Dans cet exposé, nous allons présenter et analyser les grammaires et les dictionnaires français du XVIIIe siècle faisant partie d’une collection privée qui existe actuellement à La Laguna. Cette collection est sous la tutelle de la Real Sociedad Económica de Amigos del País de Tenerife et ses oeuvres appartenaient au Ve et au VIe marquis de Villanueva del Prado, M. Tomás Lino de Nava y Grimón et son fils M. Alonso de Nava.
En ce qui concerne ce travail, tout d’abord, nous avons élaboré une esquisse de la personnalité de don Alonso organisateur de cette collection d’oeuvres françaises.
Ensuite nous avons proposé deux documents visant à décrire les particularités de la langue française du XVIIIe siècle, élaborés par Condillac et Duelos. Pour organiser ce travail nous avons envisagé, d’une part, les grammaires françaises, et, d’autre part, les dictionnaires en langue française en faisant une présentation de tous ces ouvrages.
Nous n’avons pas considéré dans notre exposé, les textes, grammaires ou dictionnaires, qui appartiennent à l’étude d’autres disciplines scientifiques, telles que la médecine, l’histoire, etc., bien qu’ils aient été rédigés en français.
Finalement, nous avons pu constater que la présence française à Tenerife, pendant le siècle éclairé, a été très remarquable. Le principal témoignage se traduit par l’existence même de cet ensemble d’oeuvres en français de la collection de Nava, dont nous avons seulement présenté celles qui se rapportent au domaine linguistique.
A influência da espiritualidade no tratamento de pacientes submetidos à cuidados paliativos: uma revisão de literatura
Authors: Carmona Guilherme Frota , Araújo Maria Carolina Marques de Sousa , Pereira Alexandre Sampaio Rodrigues 
Published: April 2023

Introdução: Cuidados Paliativos compreendem práticas de assistência ao paciente em cuidados de final de vida visando oferecer dignidade e redução do sofrimento frente a condições adversas que os mesmos enfrentam. Espiritualidade diz respeito à busca de sentido transcendente para a vida, que pode ocorrer por religião, arte, música, natureza ou solidariedade. Diante disso, o trabalho analisou o impacto da espiritualidade no prognóstico da doença em pacientes submetidos ao paliativismo. Materiais e métodos: Revisão integrativa, de natureza qualitativa, descritiva, com as seguintes bases de dados: MEDLINE; WOS; LILACS; SCOPUS; Elsevier; EMBASE. Foram obtidos 231 artigos, com uso dos seguintes descritores: “palliative care" OR "hospice care”; Spirituality OR “Spiritual Therapies"; prognosis. Após análise, 25 artigos foram utilizados na construção da pesquisa. Resultados: 8 foram usados na introdução, 1 discutiu abordagem a pacientes críticos espiritualidade, 1 discutiu espiritualidade entre cuidadores e pacientes, 3 diziam da ausência de influência da religião no prognóstico do paciente. 10 mencionaram a necessidade de se ampliar a discussão sobre a temática por novas diretrizes de cuidado. Discussão: Os trabalhos abordaram o uso de escalas como a FACIT-Sp que avaliou capacidade de funcionalidade dos pacientes submetidos a cuidados paliativos no fim de vida no início do tratamento e 12 semanas após o tratamento espiritual. Autores realizaram estudos de intervenção comparando indivíduos que foram submetidos a terapia espiritual com indivíduos não submetidos a terapia e constatou-se que o grupo-intervenção obteve melhores índices de qualidade de fim de vida, bem-estar e menores índices de depressão. Conclusão: Os trabalhos abordaram a espiritualidade dentro de um pequeno espaço amostral. Mais estudos precisam ser realizados visando obter dados mais concretos.
Infecção relacionada a cateter venoso central: comparação entre duas técnicas de fixação
Authors: De Araújo Mateus Alves , Saraiva Neto Quirino Lopes , Sousa Laís Landim , De Macêdo Davi Teixeira , Nunes Paulo Henrique Silva , Almeida Alexandra Mano 
Published: April 2023

Estudo realizado com objetivo de avaliar diferença na taxa de infecção relacionada a cateter venoso central (IRCVC) entre os dois métodos de fixação com sutura mais comuns. Foram avaliados 40 indivíduos (20 do grupo ALETA e 20 do grupo BAILARINA) internados em enfermarias ou unidades de terapia intensiva do Hospital Universitários Walter Cantídio, unidade terciária localizada em Fortaleza/Ce. Não foram considerados na pesquisa pacientes em uso de antibióticos, portadores de traqueostomia, com sítio de punção em veia femoral ou cuja indicação seja troca por suspeita de IRCVC prévia. Os dados foram analisados por meio do programa Jamovi®. Foi considerada como infecção associada ao cateter, hiperemia regional, saída de secreção purulenta pelo óstio de punção ou infecção de corrente sanguínea sem fonte determinada. O tempo médio de permanência foi de 13,7 dias para o grupo ALETA e 12,8 dias para o grupo BAILARINA. A taxa de IRCVC foi de 27,5%, não havendo diferença estatisticamente significativa entre os grupos estudados.
Perfil epidemiológico da mortalidade materna no estado do Rio Grande do Norte no período de 2016 a 2020
Authors: Cunha Gabriel de Oliveira Moura , Pereira Izete Soares da Silva Dantas , Barbosa Elane da Silva , Dantas Aline Soares 
Published: April 2023

A mortalidade materna ainda consiste em um problema de saúde pública, tornando-se um dos indicadores de desenvolvimento humano e socioeconômico de um país. A Organização Mundial da Saúde (OMS) a define como qualquer óbito que ocorra no período gestacional ou até 42 dias após o parto, sendo excluídos os óbitos decorrentes de fatores acidentais ou incidentais. A pesquisa teve como objetivo conhecer o perfil epidemiológico da mortalidade materna no Rio Grande do Norte, no período de 2016 a 2020. Tratou-se de um estudo observacional descritivo e bibliográfico a partir de dados oficiais, com enfoque quantitativo e foi realizado através de levantamento de dados relacionados à mortalidade materna no Sistema de Informação sobre Mortalidade (SIM), disponibilizados por meio da plataforma TABNET/DATASUS. A coleta de dados ocorreu durante os meses de maio e junho de 2022 a partir das variáveis disponíveis no sistema. Foram elaborados gráficos e tabelas com os dados coletados através do software Microsoft Word 2019, permitindo a análise estatística descritiva dos dados, com base em frequências absolutas e relativas. Os resultados identificaram 156 óbitos maternos, com destaque para o ano de 2017. Houve predominância de notificações em ambiente hospitalar, no período do puerpério, com causas obstétricas diretas, em mulheres solteiras de cor/etnia parda, com escolaridade 8 a 11 anos, na faixa etária de 20 a 29 anos. Conclui-se que a mortalidade materna no Rio Grande do Norte é preocupante, sendo necessário o estabelecimento de estratégias públicas focadas na promoção da saúde da mulher para reduzir esse cenário.
Suscetibilidade da linhagem celular de neuroblastoma humano (IMR-32) à infecção por arbovírus neurotrópicos
Authors: Gomes Micael Douglas de Souza , Almeida Franciane Silva , Freitas Evellem Vitória de Souza , Dos Santos Saimon Julio dos Reis , Diniz José Antonio Picanço , Barros Landeson Junior Leopoldino , Santos Maissa Maia , Wanzeller Ana Lucia Monteiro 
Published: April 2023

Introdução: Os arbovírus neurotrópicos representam um importante problema de saúde em escala global, sendo necessário a utilização de medidas de prevenção, controle e diagnóstico. Objetivo: Avaliar a efetividade da infecção de dois arbovírus neurotrópicos, vírus do Nilo Ocidental (WNV) e vírus da Encefalite de Saint Louis (SLEV), em células de neuroblastoma humano (IMR-32). Metodologia: As suspensões-estoques dos vírus foram tituladas por ensaio de placa com incubação de 120 h para WNV e 168 h para SLEV. Os isolados foram inoculados em garrafas para cultura de células que apresentavam 80% de confluência da monocamada celular e observadas por microscopia de contraste de fase por 72 h pós infecção a fim de verificar alterações morfológicas sugestivas de efeito citopático (ECP). Em seguida, as culturas foram submetidas ao ensaio de Imunofluorescência Indireta (IFI) para detecção de antígenos virais. Resultados: O título infeccioso do SLEV apresentou-se mais baixo em relação ao WNV. Em 72 h, foram observadas alterações morfológicas nas culturas inoculadas, caracterizando um ECP resultante da infecção viral, com ECP mais acentuado na cultura inoculada com WNV, confirmado pela presença de antígenos virais nas células infectadas detectados pelo teste de IFI. Conclusão: a linhagem celular IMR-32 apresentou suscetibilidade à infecção por WNV e SLEV, representando um modelo alternativo eficaz para o isolamento de arbovírus neurotrópicos.
A Bedaquilina no tratamento de Tuberculose: um estudo original
Authors: Michels Catarina Depieri , Navarro Alice Fernandes Pinheiro , Pereira Beatriz Otoni , Da Silva Ana Beatriz Tobias , Freitas Ana Luiza de Almeida , Goulart Yasmin Boa Hora , Corrêa Laysa Rodrigues , Pandini Gabriela 
Published: April 2023

Introdução: A tuberculose é uma doença infecciosa e contagiosa causada por um microorganismo chamado "bacilo de Koch”. A infecção ocorre pela inalação de partículas pequenas que atravessam as barreiras respiratórias superiores e se depositam na parte inferior dos pulmões em seus espaços subpleurais. A bedaquilina é um dos novos medicamentos desenvolvidos para a tuberculose. É uma diarilquinolina com atividade específica contra micobactérias, pois inibe a adenosina trifosfato sintase mitocondrial. Metodologia: O primeiro modelo in vitro avaliado obteve-se 101 isolados respiratórios de MAC foram submetidos à Micobactéria. Foram testados por microdiluição em caldo Mueller-Hinton com ajuste de cátions usaram painéis de microtitulação congelados com concentrações de diluição duplas. Resultados: No estudo de Brown-Elliot (2017), foi realizado o teste de suscetibilidade encontrando valores de MIC (concentração inibitória mínima) entre 0,008 a 0,03 g/ml, sendo que alguns indivíduos apresentaram resistência à claritromicina de 128 g /ml, amicacina de 1.024 g/ml e a própria bedaquilina. Na pesquisa de Pang et al (2017), foram comparados diferentes Micobactérias que possuíam MIC diferentes para bedaquilina, sendo que o melhor resultado é o que obteve menor MIC, mostrando assim, o efeito antibactericida que a bedaquilina tem. Conclusão: Entre as Micobactérias de crescimento lento a bedaquilina teve maior atividade contra mycobacterium avium com MIC 0,03 e 16mg/L.