bluuebunny/crossref_metadata_2025_split huggingface dataset:
Trio-based whole exome sequencing in patients with ectopic posterior pituitary
Authors: Lyra Arthur , Rodart Itatiana Ferreira , Barros Lara , Silva Tatiane Sousa e , da Rocha Antônio José , Kochi Cristiane , Longui Carlos Alberto 
Published: August 2024

IntroductionEctopic posterior pituitary (EPP) is a rare congenital abnormality, sometimes associated with other midline defects, such as pituitary stalk interruption syndrome (PSIS), in which thin or absent pituitary stalk and anterior pituitary hypoplasia are combined to EPP. Most cases are sporadic, with few reports of familial cases, and many congenital hypopituitarism (CH) cases remain unsolved.ObjectiveTo search for candidate genes associated with this condition, we performed trio-based whole-exome sequencing (WES) on patients with EPP, including two familial cases.MethodsThis study included subjects with EPP and PSIS diagnosed by a simple MRI protocol (FAST1.2). We performed two distinct analyses in the trio-based WES. We looked for previously described genes associated with pituitary development. Next, we investigated the whole exome for variants inherited in a pattern consistent with a monogenic etiology.ResultsTen families were evaluated; eight were composed of a child with EPP and healthy parents, one has two affected siblings, and one family has a son and mother with EPP. When analyzing the previously described candidate variants associated with pituitary development, we found variants in GLI2 and FGFR1 in three families. We also found six other variants of interest in three patients: KMT2A, GALR3, RTN4R, SEMA3A, NIPBL, and DSCAML1.ConclusionThe analysis allowed us to find previously reported and not reported GLI2 variants, all inherited from healthy parents, which reinforces the incomplete penetrance pattern of GLI2 variants in the development of EPP and draws attention to possible future functional studies of those variants that have a recurrent expression in CH. We also found novel FGFR1 and SEMA3A variants that suggest an oligogenic mechanism in PSIS and EPP, as seen in patients with hypogonadotropic hypogonadism. We report the first case of a patient with Wiedemann-Steiner syndrome and PSIS, suggesting that the KMT2A gene may be related to pituitary development. Furthermore, the trios' analysis allowed us to find five other variants of interest. Future investigations may clarify the roles of these variants in the etiology of EPP and PSIS.
Oleanane triterpenoids with C-14 carboxyl group from Astilbe grandis inhibited LPS-induced macrophages activation by suppressing the NF-κB signaling pathway
Authors: Yue Lan , Luo Jinfang , Zhao Chenliang , Zhao Jinfeng , Ye Jianghai , He Kang , Zou Juan 
Published: August 2024

BackgroundExcessive inflammation poses significant risks to human physical and mental health. Astilbe grandis, a traditional Miao medicine, is renowned for its anti-inflammatory properties. However, the specific anti-inflammatory effects and mechanisms of many compounds within this plant remain unclear. This study aims to investigate the anti-inflammatory effects and mechanisms of two characteristic oleanane triterpenoids, 3α-acetoxyolean-12-en-27-oic acid (1) and 3β-acetoxyolean-12-en-27-oic acid (2), isolated from Astilbe grandis, using lipopolysaccharide (LPS)-induced Macrophages.MethodsThe anti-inflammatory effects and mechanisms of compounds 1 and 2 were investigated by establishing an LPS-induced inflammation model in RAW 264.7 cells and THP-1 cells. Nitric oxide (NO) levels were assessed using the Griess method. The concentrations of tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and interleukin-1beta (IL-1β) were measured via enzyme-linked immunosorbent assay (ELISA). The expression of cyclooxygenase-2 (COX-2) and inducible nitric oxide synthase (iNOS) was determined using western blotting and quantitative real-time PCR (qRT-PCR). Additionally, the phosphorylation level of p65 in nuclear factor-kappa B (NF-κB) was assessed through western blotting. The nuclear translocation of NF-κB p65 was assessed through immunofluorescence staining. Finally, the binding affinity of the compounds to NF-κB p65 target was validated through molecular docking.ResultsCompounds 1 and 2 significantly inhibited the expression of NO, TNF-α, IL-6, IL-1β, COX-2, and iNOS in LPS-induced Macrophages. Mechanistically, they attenuated the activation of the NF-κB signaling pathway by downregulating the phosphorylation level and nuclear translocation of p65.ConclusionThis study elucidates the anti-inflammatory activities and potential mechanism of the characteristic oleanane triterpenoids with C-14 carboxyl group, compounds 1 and 2, in LPS-induced Macrophages by inhibiting the NF-κB signaling pathway for the first time. These findings suggest that these two compounds hold promise as potential candidates for anti-inflammatory interventions in the future.
Nitrogen fertilizer application rate affects the dynamic metabolism of nitrogen and carbohydrates in kernels of waxy maize
Authors: Feng Wanjun , Xue Weiwei , Zhao Zequn , Shi Zhaokang , Wang Weijie , Bai Yu , Wang Haoxue , Qiu Peng , Xue Jianfu , Chen Baoguo 
Published: August 2024

IntroductionNitrogen (N) plays a pivotal role in the growth, development, and yield of maize. An optimal N application rate is crucial for enhancing N and carbohydrate (C) accumulation in waxy maize grains, which in turn synergistically improves grain weight.MethodsA 2-year field experiment was conducted to evaluate the impact of different N application rates on two waxy maize varieties, Jinnuo20 (JN20) and Jindannuo41 (JDN41), during various grain filling stages. The applied N rates were 0 (N0), 120 (N1), 240 (N2), and 360 (N3) kg N ha-1.ResultsThe study revealed that N application significantly influenced nitrogen accumulation, protein components (gliadin, albumin, globulin, and glutelin), carbohydrate contents (soluble sugars, amylose, and amylopectin), and activities of enzymes related to N and C metabolism in waxy maize grains. Notable varietal differences in these parameters were observed. In both varieties, the N2 treatment consistently resulted in the highest values for almost all measured traits compared to the other N treatments. Specifically, the N2 treatment yielded an average increase in grain dry matter of 21.78% for JN20 and 17.11% for JDN41 compared to N0. The application of N positively influenced the activities of enzymes involved in C and N metabolism, enhancing the biosynthesis of grain protein, amylose, and amylopectin while decreasing the accumulation of soluble sugars. This modulation of the C/N ratio in the grains directly contributed to an increase in grain dry weight.ConclusionCollectively, our findings underscore the critical role of N in regulating kernel N and C metabolism, thereby influencing dry matter accumulation in waxy maize grains during the grain filling stage.
The enduring echoes of juvenile bullying: the role of self-esteem and loneliness in the relationship between bullying and social media addiction across generations X, Y, Z
Authors: Lissitsa Sabina , Kagan Maya 
Published: August 2024

ObjectiveBeing bullied is a profoundly distressing experience for children and adolescents, with the potential for adverse mental and behavioral outcomes throughout their adult years. This study aims to explore the association between juvenile bullying, self-esteem, loneliness, and social media addiction among men across three generational cohorts: X, Y, and Z.MethodThe study utilized an online survey, administering structured questionnaires to 797 men aged 18–58 divided into three generational cohorts: 142 individuals from Gen X (born between 1965 and 1980), 275 from Gen Y (born between 1981 and 1996), and 380 from Gen Z (born between 1997 and 2005).ResultsThe findings demonstrate that across all three generations, there was a positive correlation between experiencing bullying in one’s youth and social media addiction in adulthood. Among Gen X, self-esteem did not act as a mediator in this relationship, nor did loneliness moderate the links between bullying and social media addiction, or between self-esteem and social media addiction. However, for Gen Y and Z, self-esteem was found to mediate the relationship between bullying and social media addiction. Loneliness moderated the association between self-esteem and social media addiction in Gen Y and the association between bullying and social media addiction in Gen Z.ConclusionThe differences observed among generational cohorts can be attributed to changes in masculinity norms, the evolution of bullying types, and the rapid development of social media platforms, catering to the distinct needs and gratifications of each generation.
A real-world, cross-sectional, and longitudinal study on high-risk human papillomavirus genotype distribution in 31,942 women in Dongguan, China
Authors: Zhong Huanxia , Pan Wenwei , Chen Binbin , Gu Jiamin , Liang Yu , Sun Guoli , Huang Xinghua , Yuan Huitao , Guo Haina , Zhong Ling , Li Zhuanfen , Zhou Ping , Zeng Siliang , Tang Li 
Published: August 2024

BackgroundPersistent human papillomavirus (HPV) infection remains a key risk factor for cervical cancer. HPV-based primary screening is widely recommended in clinical guidelines, and further longitudinal studies are needed to optimize strategies for detecting high-grade cervical lesions compared to cytology.MethodsFrom November 2015 to December 2023, 31,942 participants were included in the real-world observational study. Among those, 4,219 participants underwent at least two rounds of HPV tests, and 397 completed three rounds of HPV tests. All participants were tested for high-risk types of HPV 16/18/31/33/35/39/45/51/52/56/58/59/66/68 (hrHPV) and low-risk types of HPV6/11 genotyping. Some participants also received cytology or colposcopy with pathology.ResultsIn the cross-sectional cohort, the prevalence of hrHPV and all HPV subtypes was 6.6% (2,108/31,942) and 6.8% (2,177/31,942), respectively. The three top hrHPV genotypes were HPV52 (1.9%), HPV58 (0.9%), and HPV16 (0.9%). Age distributions showed two peaks at 45–49 and 60–65 years. For the primary screening cohort, the hrHPV prevalence rate increased from 4.8% in 2015–2017 to 7.0% in 2020–2020 and finally reached 7.2% in 2023. For the longitudinal cohort study, the hrHPV prevalence rates in the repeated population (3.9, 5.3, and 6.0%) were lower than the primary hrHPV screening rates (6.6%), which indicated that repeated screening might decrease the prevalence rate. Methodologically, the hrHPV (89.5%) and the screening group of 16 subtypes (92.3%) demonstrated superior sensitivity than the cytology group (54.4%). Moreover, the longitudinal study indicated that the persistent hrHPV subgroup had a significantly higher (p = 0.04) incidence of high-grade squamous intraepithelial lesions and more histology progression events (7/17 vs. 0/5) than the reinfection group.ConclusionThe study indicates a rising high-risk HPV prevalence in Dongguan, with repeated screening reducing this trend. The findings support HPV-based primary screening and might guide HPV vaccination and cervical cancer prevention in South China.
Deep learning for prediction of post-thrombectomy outcomes based on admission CT angiography in large vessel occlusion stroke
Authors: Sommer Jakob , Dierksen Fiona , Zeevi Tal , Tran Anh Tuan , Avery Emily W. , Mak Adrian , Malhotra Ajay , Matouk Charles C. , Falcone Guido J. , Torres-Lopez Victor , Aneja Sanjey , Duncan James , Sansing Lauren H. , Sheth Kevin N. , Payabvash Seyedmehdi 
Published: August 2024

PurposeComputed Tomography Angiography (CTA) is the first line of imaging in the diagnosis of Large Vessel Occlusion (LVO) strokes. We trained and independently validated end-to-end automated deep learning pipelines to predict 3-month outcomes after anterior circulation LVO thrombectomy based on admission CTAs.MethodsWe split a dataset of 591 patients into training/cross-validation (n = 496) and independent test set (n = 95). We trained separate models for outcome prediction based on admission “CTA” images alone, “CTA + Treatment” (including time to thrombectomy and reperfusion success information), and “CTA + Treatment  + Clinical” (including admission age, sex, and NIH stroke scale). A binary (favorable) outcome was defined based on a 3-month modified Rankin Scale ≤ 2. The model was trained on our dataset based on the pre-trained ResNet-50 3D Convolutional Neural Network (“MedicalNet”) and included CTA preprocessing steps.ResultsWe generated an ensemble model from the 5-fold cross-validation, and tested it in the independent test cohort, with receiver operating characteristic area under the curve (AUC, 95% confidence interval) of 70 (0.59–0.81) for “CTA,” 0.79 (0.70–0.89) for “CTA + Treatment,” and 0.86 (0.79–0.94) for “CTA + Treatment + Clinical” input models. A “Treatment + Clinical” logistic regression model achieved an AUC of 0.86 (0.79–0.93).ConclusionOur results show the feasibility of an end-to-end automated model to predict outcomes from admission and post-thrombectomy reperfusion success. Such a model can facilitate prognostication in telehealth transfer and when a thorough neurological exam is not feasible due to language barrier or pre-existing morbidities.
Global incorporation of meta-fluorotyrosine or meta-fluorophenylalanine into 1,2-catechol dioxygenase modulates the binding affinities of substrates
Authors: Wong Michael C. H. , Grant Thomas E. , Karbalaei-Heidari Hamid Reza , Robotham Anna C. , Loewen Matthew E. , St-Jacques Antony D. , Budisa Nediljko , Loewen Michele C. 
Published: August 2024

IntroductionPrevious studies have shown how replacing canonical residues with isosteric amino acid analogs in enzymes can predictably alter biocatalytic activities by introducing variations in the first and second shell residues relative to the binding pocket. In this study, we explore the global integration of amino acid analogs into 1,2-catechol dioxygenase from Rhodococcus opacus (Rho 1,2-CTD), an industrial enzyme containing non-heme iron that is vital for phenol ring degradation.MethodsWe replaced tyrosine residues in the first shell of the binding pocket, phenylalanine residues in the second shell, and methionine residues near the binding pocket with m-fluorotyrosine (m-FY), m-fluorophenylalanine (m-FF), and Nle, respectively, using auxotrophic Escherichia coli strains.ResultsThe expression, purification, and incorporation of m-FY and m-FF into the Rho 1,2-CTD was successful, but the Nle-insertion did not work. The structural characterization of the resulting m-FF- and m-FY-containing variants provided a mechanistic framework and plausible explanation for the results of the kinetic analyses of the native enzyme and fluorinated variants.DiscussionOur findings demonstrate the impact of fluorination on the activity of 1,2-catechol dioxygenase, revealing its influence on residues near the substrate (first shell) as well as those distant from the binding pocket (second shell). This provides a robust foundation for future engineering activity.
O papel crucial da gastronomia no aumento da aceitabilidade das dietas hospitalares
Authors: Santos Vitória Gabriele Araújo , Santos Mayara Cardoso dos , Carvalho Michelle Garcêz de 
Published: August 2024

A gastronomia tem como principal foco a valorização do alimento, podendo ser difundida e aplicada no ambiente hospitalar cujas as refeições muitas vezes são associadas a algo sem sabor e aparência pouco atrativa, o que pode levar a baixa ingestão e consequente desnutrição e prolongamento do período de internação. Diante disso, objetivou-se avaliar a influência da inserção de técnicas gastronômicas na aceitabilidade de dietas servidas a pacientes de um hospital. Participaram 100 pacientes com prescrição de dieta branda livre e dieta branda hipossódica, sendo divididos em dois grupos (Grupo 1: recebeu a refeição com a inserção de técnicas gastronômicas; Grupo 2: recebeu a refeição habitual do hospital). Antes da aplicação das intervenções gastronômicas, foram elaborados, entregues e implementados os seguintes Procedimentos Operacionais Padronizados (POPs): a) Controle da temperatura das dietas; e b) Aplicação de técnicas gastronômicas (coloração do arroz, adição de ervas, sementes ou especiarias, apresentação e organização da marmita). Foram avaliados pelos pacientes cardápios ofertados no almoço, com auxílio de um questionário com escala hedônica estruturada de nove pontos (aparência, sabor, cor, textura e temperatura). Realizou-se a medição da temperatura e a coleta das imagens das marmitas, assim como, avaliou-se o consumo alimentar de cada paciente (café da manhã à ceia). Com exceção à aparência e a cor, os demais parâmetros avaliados obtiveram a mesma aceitabilidade sensorial (gostei moderadamente a gostei muito). A temperatura variou de acordo com o tipo de alimento contido na marmita (com variações de 0,8 a 16,5°C entre as aferições). Foram fotografadas 82 marmitas (41 com e 41 sem intervenção), sendo as marmitas com intervenção mais atrativas visualmente o que pode ter refletido no aumento da aceitabilidade (aparência e cor). A maioria dos pacientes de cada grupo ingeria 100% das refeições ofertadas, sem diferença (p>0,05) entre os grupos quanto à ingestão do almoço. O cardápio ofertado pelo hospital era variado. A aplicação das técnicas gastronômicas aumentou a aceitabilidade das dietas, sendo importante a continuidade e aprimoramento das mesmas. A mudança visual da preparação foi o fator de maior destaque, sendo fundamental para a melhoria dos parâmetros avaliados.
Endocardite bacteriana mitroaórtica por Enterococcus faecalis
Authors: Corrêa Sâmia Amorim , Sadala Anne Elizabeth , Nobre Marlucia do Nascimento , Farias Tatiane de Oliveira , Henriques Junior Jose Antonio Berlange , Aranha Aline Brasil 
Published: August 2024

A endocardite infecciosa (EI) é uma infecção bacteriana na superfície endocárdica do coração que pode ser causada por diversas bactérias e fundos.. A pneumatose intestinal (PI) é uma condição que pode estar associada a EI e habitualmente assintomática, com complicações em apenas 3% dos casos, incluindo obstrução intestinal, perfuração e hemorragia. Uma vez em circulação, os Enterococos têm elevada afinidade para válvulas cardíacas espessadas ou protésicas. A perfuração do anel mitral é uma complicação particularmente grave da EI, sendo importante o diagnóstico precoce e a intervenção cirúrgica essenciais para evitar complicações fatais.
Perfil epidemiológico da incidência da violência autoprovocada no Brasil de 2018 a 2022
Authors: Federici Manuela Calegari Mereti Morais , Juliano Mariana Gatto , Vasconcelos Cindy Larielli , Pádua Fernanda Alves Padilha , Soares Fúlvia Bento , Gouvêa Aline Russomano de 
Published: August 2024

O suicídio é um indicador de mortes evitáveis, e por ter alta incidência na atualidade no país, é necessário incentivar políticas de promoção à saúde e prevenção deste agravo. Esta pesquisa teve como objetivo analisar o perfil epidemiológico das notificações de violência autoprovocada no Brasil, no período de 2018 a 2022. Trata-se de um estudo descritivo, quantitativo, a partir das informações do Sistema de Informação de Agravos de Notificação (SINAN) e Sistema de Informação de Mortalidade (SIM), coletados no DATASUS (Departamento de Informática do Sistema Único de Saúde), em dezembro 2023. A frequência por lesão autoprovocada no período de 2018-2022 notificados no SINAN, tendo a própria pessoa como provável autor da agressão, foi de 556.152, indicando aumento de mais de 35% de casos nesse período. A região Sudeste liderou em número de casos (46,94%). As faixas etárias de maior incidência foram de 20-29 anos (29,14%) e 15-19 anos (21,88%), e o sexo feminino o predominante (70,17%). A notificação por repetição representou 41,57% dos casos. O meio de agressão mais frequente foi envenenamento (63,60%). Apenas 2 notificações foram concluídas no sistema, todas as demais deixadas “em branco”. No SIM, o aumento nos óbitos (CID10: X60-X84) de 2018 a 2021 foi de mais de 17% com predomínio do sexo masculino com 78,30% dos 55.587 óbitos. A qualidade das notificações no SINAN merece atenção, com 99,99% das notificações não concluídas corretamente. O aumento nos casos notificados e nos óbitos ressalta a necessidade urgente de abordagens coordenadas e eficazes em saúde mental e prevenção.
Eficácia de três pontas diamantadas adaptadas a um dispositivo alternativo, na instrumentação de cálculo artificial na área da furca dental
Authors: Cedro João Paulo Cardoso , Costa Ana Carolina de Albuquerque , Figueiredo Igor Tenorio , Lima Vanessa Mascarenhas , Borges Cristine D’Almeida , Lima Fernando José Camello de , Penteado Luiz Alexandre Moura 
Published: August 2024

Objetivo: Avaliar a eficácia da remoção de cálculo artificial na região de furca obtida por meio de um dispositivo, alternando três tipos de pontas ativas diamantadas: ponta diamantada esférica, tronco-cônica e em chama. Métodos: Impregnaram-se os terços apicais de sessenta dentes artificiais com cálculo artificial, incluídos em base de gesso e depois simulou-se uma gengiva artificial. A instrumentação manual foi feita com três tipos de brocas diferentes. Antes e após a instrumentação realizaram-se fotos padronizadas da área de furca, para a análise dos resultados. Resultados: As médias dos cálculos antes e após a instrumentação foram comparadas intra-grupo, apresentando diferença significativa (Tukey, p<0,05) e a quantidade de cálculo remanescente foi comparada entre-grupos, apresentando a ponta diamantada esférica maior eficácia em relação às demais. (Tukey, p<0,05). Conclusão: Conclui-se que a ponta diamantada esférica apresentou uma maior eficácia na remoção de cálculo artificial na região de furca em relação às demais, em dentes multirradiculares artificiais.
Penerapan Model Discovery Learning untuk Meningkatkan Hasil Belajar Matematika Siswa Kelas IX SMP Angkasa Kupang pada Materi Bangun Ruang Sisi Lengkung dengan Berbantuan GeoGebra
Authors: Mal Maria Nutriani , Ekowati Christine K. , Halim Fransiska Atrik 
Published: August 2024

Penelitian ini dilatarbelakangi oleh rendahnya hasil belajar matematika siswa kelas IX SMP Angkasa Kupang khususnya pada materi bangun ruang sisi lengkung. Tujuan penelitian ini adalah untuk meningkatkan hasil belajar matematika kelas IX SMP Angkasa Kupang pada materi bangun ruang sisi lengkung khususnya tabung dan kerucut. Jenis penelitian yang digunakan adalah Penelitian Tindakan Kelas (PTK) yang mengacu pada model Kemmis & Mc Taggart, dilakukan dalam 2 siklus dengan masing-masik siklus terdiri dari 4 tahap yaitu: 1) Perencanaan; 2) Pelaksanaan Tindakan; 3) Observasi; dan 4) Refleksi. Teknik pengumpulan data dalam penelitian ini adalah observasi dan tes sedangkan analisis datanya berupa deskriptif kualitatif dan kuantitatif. Hasil penelitian ini menunjukkan bahwa nilai keterlaksanaan observasi guru pada siklus I adalah 76,1% meningkat menjadi 93,05% pada siklus II, nilai keterlaksanaan observasi siswa pada siklus I adalah 63% meningkat menjadi 89,8%% pada siklus II, , dan hasil belajar pada siklus I adalah 58,3% meningkat menjadi 83,3% pada siklus II. Dengan demikian dapat disimpulkan bahwa penerapan model pembelajaran discovery learning berbantuan GeoGebra dapat meningkatkan hasil belajar matematika siswa SMP Angkasa Kupang pada materi bangun ruang sisi lengkung khususnya tabung dan kerucut