bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comprehensive analysis of prognostic value, immune implication and biological function of CPNE1 in clear cell renal cell carcinoma
Authors: Zhou Haiting , He Yi , Huang Yongbiao , Li Rui , Zhang Hao , Xia Xiaohui , Xiong Huihua 
Published: April 2023

Background: Elevated expression of Copine-1 (CPNE1) has been proved in various cancers; however, the underlying mechanisms by which it affects clear cell renal cell carcinoma (ccRCC) are unclear.Methods: In this study, we applied multiple bioinformatic databases to analyze the expression and clinical significance of CPNE1 in ccRCC. Co-expression analysis and functional enrichment analysis were investigated by LinkedOmics, cBioPortal and Metascape. The relationships between CPNE1 and tumor immunology were explored using ESTIMATE and CIBERSORT method. In vitro experiments, CCK-8, wound healing, transwell assays and western blotting were conducted to investigate the effects of gain- or loss-of-function of CPNE1 in ccRCC cells.Results: The expression of CPNE1 was notably elevated in ccRCC tissues and cells, and significantly correlated with grade, invasion range, stage and distant metastasis. Kaplan–Meier and Cox regression analysis displayed that CPNE1 expression was an independent prognostic factor for ccRCC patients. Functional enrichment analysis revealed that CPNE1 and its co-expressed genes mainly regulated cancer-related and immune-related pathways. Immune correlation analysis showed that CPNE1 expression was significantly related to immune and estimate scores. CPNE1 expression was positively related to higher infiltrations of immune cells, such as CD8+ T cells, plasma cells and regulatory T cells, exhibited lower infiltrations of neutrophils. Meanwhile, elevated expression of CPNE1 was characterized by high immune infiltration levels, increased expression levels of CD8+ T cell exhaustion markers (CTLA4, PDCD1 and LAG3) and worse response to immunotherapy. In vitro functional studies demonstrated that CPNE1 promoted proliferation, migration and invasion of ccRCC cells through EGFR/STAT3 pathway.Conclusion: CPNE1 is a reliable clinical predictor for the prognosis of ccRCC and promotes proliferation and migration by activating EGFR/STAT3 signaling. Moreover, CPNE1 significantly correlates with immune infiltration in ccRCC.
Ovarian tissue cryopreservation in the pediatric with rare diseases- experience from China’s first and the largest ovarian tissue cryobank
Authors: Ruan Xiangyan , Cheng Jiaojiao , Du Juan , Jin Fengyu , Gu Muqing , Ju Rui , Wu Yurui , Li Long , Wang Yuejiao , Jiang Lingling , Yang Yu , Li Yanqiu , Wang Zecheng , Ma Jun , Zhang Mingzhen , Mueck Alfred O. 
Published: April 2023

BackgroundThere is limited information about the efficacy of ovarian tissue cryopreservation (OTC) in children. In the present study, we report eight patients with rare diseases who underwent OTC in China’s first and largest ovarian tissue cryobank.ProcedureData from girls with rare diseases who underwent OTC between September 2020 and November 2022 were retrospectively analyzed. We also compared the number of cryopreserved cortex pieces, follicle number, and AMH in those with rare diseases and age-matched children with non-rare diseases who also underwent OTC in our cryobank.ResultsThe median age of the children was 5.88 ± 3.52 (range 2-13) years old. Unilateral oophorectomy was undertaken via laparoscopy in all of the children. The diseases in the 8 patients were: 4 mucopolysaccharidoses (MPS I two cases, IVA two cases), 1 Diamond-Blackfan anemia (DBA), 1 Fanconi anemia (FA), 1 hyperimmunoglobulin E syndrome (HIES), 1 Niemann-Pick disease. The number of cryopreserved cortex pieces was 17.13 ± 6.36, and the follicle count per 2 mm biopsy was 447.38 ± 524.35. No significant difference in age, the count of cryopreserved cortex pieces, follicle number per 2 mm biopsy, and AMH level was seen between the 20 children with non-rare diseases and those with rare diseases.ConclusionsThe reports help practitioners counsel girls with rare diseases about fertility preservation. The demand for OTC in pediatrics will likely grow as a standard of care.
CRISPR/Cas9-generated mouse model with humanizing single-base substitution in the Gnao1 for safety studies of RNA therapeutics
Authors: Polikarpova Anna V. , Egorova Tatiana V. , Lunev Evgenii A. , Tsitrina Alexandra A. , Vassilieva Svetlana G. , Savchenko Irina M. , Silaeva Yuliya Y. , Deykin Alexey V. , Bardina Maryana V. 
Published: April 2023

The development of personalized medicine for genetic diseases requires preclinical testing in the appropriate animal models. GNAO1 encephalopathy is a severe neurodevelopmental disorder caused by heterozygous de novo mutations in the GNAO1 gene. GNAO1 c.607 G&gt;A is one of the most common pathogenic variants, and the mutant protein Gαo-G203R likely adversely affects neuronal signaling. As an innovative approach, sequence-specific RNA-based therapeutics such as antisense oligonucleotides or effectors of RNA interference are potentially applicable for selective suppression of the mutant GNAO1 transcript. While in vitro validation can be performed in patient-derived cells, a humanized mouse model to rule out the safety of RNA therapeutics is currently lacking. In the present work, we employed CRISPR/Cas9 technology to introduce a single-base substitution into exon 6 of the Gnao1 to replace the murine Gly203-coding triplet (GGG) with the codon used in the human gene (GGA). We verified that genome-editing did not interfere with the Gnao1 mRNA or Gαo protein synthesis and did not alter localization of the protein in the brain structures. The analysis of blastocysts revealed the off-target activity of the CRISPR/Cas9 complexes; however, no modifications of the predicted off-target sites were detected in the founder mouse. Histological staining confirmed the absence of abnormal changes in the brain of genome-edited mice. The created mouse model with the “humanized” fragment of the endogenous Gnao1 is suitable to rule out unintended targeting of the wild-type allele by RNA therapeutics directed at lowering GNAO1 c.607 G&gt;A transcripts.
Current dietary intake of the Japanese population in reference to the planetary health diet-preliminary assessment
Authors: Nomura Marika , Yamaguchi Miwa , Inada Yuji , Nishi Nobuo 
Published: April 2023

IntroductionWe sought to assess the Japanese diet by examining the current dietary intake in Japan using the global reference diet from the EAT-Lancet Commission (Planetary Health Diet; PHD), from the perspective of protein intake in different age groups.MethodsAverage dietary intake by food group in the Japan National Health and Nutrition Survey 2019 (NHNS 2019) was converted to the PHD food groups, and the diet gap (DG) (%) of the global reference of the PHD was calculated by age group.ResultsAlthough the DG of the intake was excessive compared with the global reference of the PHD in most food groups in all age groups (7.1–416%), the intake exceeded the upper limit of the range only for red meat (640%). Red meat had the highest DG among subjects in their 40s, although the DG decreased with increasing age. Protein intake was within the possible range and did not greatly exceed the recommended dietary intake in the Japanese standard.DiscussionThe current Japanese diet contains an excessive intake of red meat in terms of the global reference of the PHD. This trend is similar to that previously reported in various western regions and countries. However, the Japanese diet does not significantly exceed the recommended protein intake for Japanese people, suggesting that the PHD is an environmentally friendly and healthy choice for younger and older age groups in an aging Japanese society. Policy makers need to develop sustainable and healthy food-based dietary guidelines in addition to providing food and nutrition education and developing a food environment that encourages sustainable and healthy choices to support dietary change.
Genomic landscape and efficacy of HER2-targeted therapy in patients with HER2-mutant non-small cell lung cancer
Authors: Han Yanjie , Xiong Yuanyuan , Lu Tao , Chen Rongrong , Liu Yuan , Tang Hui , Geng Ruixuan , Wang Yingyi 
Published: April 2023

BackgroundHER2-targeted therapy provides survival benefits to HER2-mutant non-small cell lung cancer (NSCLC). A better understanding of the clinical and genomic characterization of treatment-naïve HER2-positive NSCLC, as well as the efficacy of and resistance to HER2-targeted therapy in HER2-altered NSCLC, could promote further improvement of HER2 targeted therapy.MethodsHER2-altered NSCLC patients was retrospectively included and their genomic profiles were performed by next-generation sequencing. The clinical outcomes included overall response rate, disease control rate and progression-free survival.ResultsAmong 176 treatment-naïve patients with HER2 alterations, 64.8% harbored HER2 mutations with/without HER2 amplification, and 35.2% carried HER2 amplification only. Molecular characterization was correlated with tumor stage that late-stage NSCLC with HER2 oncogenic mutations showed a higher prevalence of TP53 mutations and a higher tumor mutation burden. However, this correlation was not found in patients with HER2 amplification only. Twenty-one patients with HER2 alterations treated with pyrotinib or afatinib were retrospectively enrolled. Pyrotinib yielded a longer median progression-free survival than afatinib (5.9 [95% CI, 3.8-13.0] vs. 4.0 months [95% CI, 1.9-6.3], P = 0.06) in these patients. Analysis of the genomic profiles before and after anti-HER2 targeted therapies identified de novo HER2 copy number gain and G518W mutation, as well as mutations involving DNA damage repair signaling, SWI–SNF complex, and epigenetic regulations as potential resistance mechanisms.ConclusionHER2-mutant NSCLC had different molecular features from HER2-amplified NSCLC, and its genomic profile was dependent of tumor stage. Pyrotinib had superior therapeutic effects than afatinib in HER2-altered NSCLC, although larger cohorts are warranted to validate it. HER2-dependent and -independent resistance mechanisms to afatinib and pyrotinib were unveiled.
Effect of COVID-19 vaccination on the outcome of in vitro fertilization: A systematic review and meta-analysis
Authors: Zhang Linyu , Sun Xinrui , Wang Ruohan , Ma Fang 
Published: April 2023

BackgroundUniversal COVID-19 vaccination programs are now recommended in several countries and represent the most effective preventive measure against COVID-19. However, some reports suggest that vaccination may cause infertility or have adverse effects on pregnancy. Conflicting reports have led to vaccine hesitancy in women planning pregnancy.PurposeTo determine whether vaccination against COVID-19 affects in vitro fertilization (IVF) outcomes, we conducted a meta-analysis.MethodA systematic search was conducted using PubMed, Embase, MEDLINE, and Web of Science databases for all published literature on COVID-19 vaccines and outcomes of IVF. International Prospective Register of Systematic Reviews registration was completed on September 13, 2022 (CRD42022359771).ResultsWe analyzed 20 studies totaling 18,877 individual cases undergoing IVF. COVID-19 vaccination had significant effect on clinical and ongoing pregnancy rate (risk ratio (RR): 0.97; 95% confidence interval (CI): 0.94–0.99; RR: 0.93; 95% CI: 0.87–0.99). These outcomes did not differ between vaccinated and unvaccinated individuals: biochemical pregnancy rate (RR: 0.95; 95% CI: 0.88–1.03), implantation rate (RR: 1.02; 95%CI: 0.97–1.07; P = 0.41), the number of oocytes (mean difference (MD): 0.12; 95% CI: −0.65–0.88) and MII/mature oocytes recovered (MD: 0.27; 95% CI: −0.36–0.90), blastocysts rate (MD: 0.01; 95% CI: −0.04, 0.06), and fertilization rate (MD: 1.08; 95% CI: −0.57, 2.73).ConclusionOur findings suggest that vaccination against COVID-19 does not adversely affect the biochemical pregnancy rates; number of oocytes and MII/mature oocytes obtained; implantation, blastocysts; and fertilization rates in women undergoing IVF treatment. Subgroup analysis showed that the mRNA vaccine had no statistical significance on all indexes (clinical, biochemical, or ongoing pregnancy rates; implantation, blastocysts, or fertilization rates; and the number of oocytes and MII/mature oocytes). The findings of this meta-analysis are anticipated to increase the willingness of women planning IVF treatment to receive COVID-19 vaccination and provide evidence-based medical guidance for the development and implementation of guidelines.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/, identifier: CRD42022359771.
Victimización escolar y clima socio-familiar
Authors: Moreno Moreno Miguel , Vacas Díaz Carmen , Roa Venegas José María 
Published: April 2023

En el presente trabajo se ha pretendido relacionar la violencia escolar con diez situaciones del ambiente socio-familiar de los individuos de una muestra de 1.119 escolares comprendidos entre 8 y 17 años. Se han considerado también variables como la edad, el sexo y el nivel socio-económico del colegio de procedencia.
Los resultados indicaron la fuerte relación entre aspectos del ámbito socio-familiar como el control familiar, la cohesión, el conflicto, la expresividad o los intereses culturales y socio-recreativos, con factores de violencia escolar (victimizado, victimizador y trato en colegio y casa). También se han encontrado diferencias significativas en la edad, en la que los individuos menores de 12 años se manifestaron más afectados por la violencia escolar; y el sexo, en el que los varones indicaron estar más involucrados en fenómenos de bullying.
Políticas tecnológicas en un escenario de gestión del conocimiento en educación
Authors: Gutiérrez Vargas Giovanni , Orozco Cruz Juan Carlos 
Published: April 2023

Las políticas de ciencia y tecnología en educación han estado encaminadas a la atención de procesos de cobertura, acceso, infraestructura y programas de capacitación en tecnologías sin tener en cuenta las reales necesidades de la institución escolar y del papel fundamental de la pedagogía.
En Colombia, las políticas tecnológicas promulgadas se han planteado en términos de la retórica tecnocrática, donde el único mecanismo para el desarrollo de la sociedad se centra en la incorporación de tecnologías en los sectores productivo y educativo.
El presente artículo pone en discusión la necesidad que existe hoy de cambiar la postura instrumental de las citadas políticas, para comprender los retos que presupone la actual sociedad del conocimiento en relación con la virtualidad, la cultura tecnológica y la producción de información, como motores en la producción de conocimiento en la escuela y como ejes que pueden acabar con el mito según el cual la industrialización a ultranza permite alcanzar bienestar, reducir las desigualdades sociales y hace que las personas sean más felices.
[Reseña] Teoria e prática da educação
Authors: Alonso Sáinz Tania 
Published: April 2023

Valentín Martínez-Otero. Teoria e prática da educação, Natal, edufrn-Universidade Federal do Rio Grande do Norte. 515 páginas. isbn: 978-85-7273-705-0.
Dice el refrán que no hay mejor práctica que una buena teoría. La obra que aquí se presenta es una traducción del español al portugués del libro Teoría y práctica de la educación, editado por vez primera en el año 2003. En este libro, el autor logra una acertada conciliación entre teoría y praxis educativa. La persona que se acerque a sus páginas puede descubrir principios y explicaciones, conceptos y contenidos científicos sobre la realidad educativa...
[Reseña] Pensamiento libre para personas con discapacidad intelectual. Programa Pienso, luego soy uno más
Authors: Infante Luis Alberto 
Published: April 2023

Sánchez Alcón, J.M. (2011). Pensamiento libre para personas con discapacidad intelectual. Programa Pienso, luego soy uno más. Madrid: Pirámide. 215 págs. ISBN: 978-84-368-2435-3.
Este libro nos presenta un programa de pensamiento para personas con Discapacidad Intelectual (DI) basándose en la libertad y la autodeterminación, lo cual junto al planteamiento de aunar esfuerzos por parte de los educadores de formar de manera integral a las personas con DI, a la base de lo que poseen y no de lo que “no tienen” o “lo que falta”, constituyen un primer elemento innovador.Esta propuesta se sustenta en pilares teóricos como la Planificación Centrada en la Persona (PCP), metodología detrabajo basada en dos principios fundamentales: la creencia de que todas las personas son diferentes y el derecho a elegir la propia vida (López, Marín y De la Parte, 2004)1; y el bienestar cognitivo, relacionado con la satisfacciónpersonal, la salud y la realización de actividades de la vida diaria, ambos indicadores de calidad de vida según el modelo de Shalock y Verdugo. Cabe destacar que el constructo de calidad de vida se refiere a un marco conceptualque guía el desarrollo de servicios y evaluación de los resultados personales (Schalock y Verdugo, 2007) [...]
[Reseña] Dislexia en español. Prevalencia e indicadores cognitivos, culturales, familiares y biológicos
Authors: Arvelo Rosales Carmen Nuria 
Published: April 2023

Juan E. J iménez (coord.) (2012). Dislexia en español. Prevalencia e indicadores cognitivos, culturales, familiares y biológicos. Madrid: Pirámide.
Juan E. Jiménez González es Catedrático de Psicología Evolutiva y de la Educación de la Universidad de la Laguna (Tenerife, Islas Canarias). En la actualidad imparte docencia en la Licenciatura de Psicología y en el Máster de Neurociencia Cognitiva y Necesidades Educativas Específicas, del que es director académico. Asimismo, dirige también el Programa de Doctorado de Neurociencia Cognitiva y Educación. Ha sido el investigador principal de múltiples proyectos, financiados tanto por los fondos FEDER como por el Ministerio de Ciencia e Innovación y la Universidad de La Laguna. Igualmente, el resto de los autores de este libro, desarrollan su labor docente en las Universidades Canarias dentro de las Facultades de Psicología y de Educación atendiendo a diferentes líneas de investigación relacionadas con la identificación y el tratamiento de las dificultades específicas de aprendizaje.
[Reseña] La educación repensada. Dinámicas de continuidad y cambio
Authors: Fernández de los Ríos Jorge Antonio 
Published: April 2023

Belando-Montoro, María R. (coord.) (2015). La educación repensada. Dinámicas de continuidad y cambio. Madrid, Pirámide, 169 pp.
La educación repensada. Dinámicas de continuidad y cambio es una obra coral brillantemente coordinada por María R. Belando de la Universidad Complutense, acompañada por prestigiosos colegas de diversas universidades españolas. En esta obra se ordenan y se repiensan importantes cuestiones educativas de manera pausada y analítica, lo cual supone una necesaria e importante aportación para abordar los desafíos educativos que nos rodean desde hace tiempo. Esa es la labor que uno se encuentra en las muy interesantes páginas de este libro sobre las dinámicas de continuidad y cambio en educación.
[Reseña] Horizontes para los educadores. Las profesiones educativas y la promoción de la plenitud humana
Authors: Naval Durán Concepción 
Published: April 2023

Ibáñez-Martín, José Antonio (2017). Horizontes para los educadores. Las profesiones educativas y la promoción de la plenitud humana. Madrid. Dykinson. 280 págs. ISBN 978-84-9148-163-8
Este libro es una obra de madurez y diría legado de un autor prolífico, maestro de docentes e investigadores universitarios, donde propone con total claridad y sereno desarrollo intelectual, horizontes ambiciosos para los educadores, con margen para una profunda discusión sobre las propuestas. Con amplia liberalidad, ofrece luces para quienes ejercemos las profesiones educativas, en la búsqueda de la promoción humana...
Sífilis ocular asociada a VIH: una serie de casos y ¿una alerta clínica?
Authors: Collins-Camones Jaime Antonio , Chirinos-Yunis Robert Antonio 
Published: April 2023

Creemos que será de interés para los lectores de la revista de la SPMI presentar una reciente serie de casos de sífilis ocular asociada a pacientes con el virus de inmunodeficiencia adquirida humano (VIH) como alerta clínica en el marco de la pandemia de la COVID-19.
Application of seminal vesiculoscopy on the treatment of seminal vesiculitis
Authors: Cao Di , Yang Qingsong , Zhu Weicong , Ma Huangbin 
Published: April 2023

Objective: The development of seminal vesicle technology has greatly improved the efficiency of diagnosis and treatment of seminal vesiculitis, but its long-term efficacy and postoperative complications still need to be evaluated further.
Patients and methods: Ninety-eight patients with seminal vesiculitis were randomly assigned to a traditional medical treatment control group (n = 49) and a seminal vesiculoscopy group (n = 49). The clinical efficacy of the two groups of patients, including blood sperm and pain, was evaluated 1 month after surgery. The maximum urine flow rate (MFR) and the average urine flow rate (AFR) were measured.
Results: Compared with traditional medicine, seminal vesicle endoscopy has a higher clinical effect on seminal vesiculitis. Seminal vesicle therapy was more effective in reducing blood cells in patient’s semen and improving the patient’s urinary function. The seminal vesicle volume and seminal fructose were significantly improved.
Conclusions: The efficacy of seminal vesiculoscopy for seminal vesiculitis is better than traditional medicine.
KARAKTERISTIK KEMAMPUAN KOORDINASI GERAK BERDASARKAN USIA DAN JENIS KELAMIN SISWA SEKOLAH DASAR
Authors: Mardius Ali , Gusril Gusril , Bakhtiar Syahrial , Komaini Anton 
Published: April 2023

Tujuan penelitian ini untuk mengetahui Perbedaan Karakteristik Kemampuan Koordinasi Gerak Berdasarkan Usia dan Jenis Kelamin Siswa di Sekolah Dasar Negeri 24 Perupuk Kota Padang. Studi ini dilakukan di antara Siswa berusia 7 – 12 tahun yang berjumlah 120 orang di Sekolah Dasar Negeri Keceamatan Koto Tangah Kota Padang. Sampel tersebar di kelas 1 sampai 6. Masing-masing kelas berjumlah ± 4 siswa yang terdiri dari siswa laki-laki dan perempuan. Instrumen dalam penelitian ini adalah: menggunakan alat Tes koordinasi gerak dari yaitu: (1) balance beam (2) Eye-hand coordination, (3) jumping sideway, (4) moving sideways, dan (5). Data dianalisis dengan (ANOVA) satu arah, untuk menentukan sumber perbedaan uji Tukey HSD dilakukan pada variansn yang homogen. Selanjutnya, sebuah sampel independen t-test digunakan untuk dua kelompok perbandingan. Tingkat signifikansi diambil < 0,05. Hasil penelitian menunjukan terdapat perbedaan karakteristik kemampuan koordinasi gerak siswa usia 7 - 9 tahun dengan siswa usia 10 - 12 tahun, dan terdapat perbedaan karakteristik kemampuan koordinasi gerak siswa antara jenis kelamin laki-laki dengan jenis kelamin perempuan.