bluuebunny/crossref_metadata_2025_split huggingface dataset:
Impaired Endosome Maturation Mediates Tubular Proteinuria in Dent Disease Cell Culture and Mouse Models
Authors: Shipman Katherine E. , Baty Catherine J. , Long Kimberly R. , Rbaibi Youssef , Cowan Isabella A. , Gerges Mona , Marciszyn Allison L. , Kashlan Ossama B. , Tan Roderick J. , Edwards Aurélie , Weisz Ora A. 
Published: February 2023

Significance Statement
Loss of function of the 2Cl−/H+ antiporter ClC-5 in Dent disease causes an unknown impairment in endocytic traffic, leading to tubular proteinuria. The authors integrated data from biochemical and quantitative imaging studies in proximal tubule cells into a mathematical model to determine that loss of ClC-5 impairs endosome acidification and delays early endosome maturation in proximal tubule cells, resulting in reduced megalin recycling, surface expression, and half-life. Studies in a Dent mouse model also revealed subsegment-specific differences in the effects of ClC-5 knockout on proximal tubule subsegments. The approach provides a template to dissect the effects of mutations or perturbations that alter tubular recovery of filtered proteins from the level of individual cells to the entire proximal tubule axis.

Background
Loss of function of the 2Cl−/H+ antiporter ClC-5 in Dent disease impairs the uptake of filtered proteins by the kidney proximal tubule, resulting in tubular proteinuria. Reduced posttranslational stability of megalin and cubilin, the receptors that bind to and recover filtered proteins, is believed to underlie the tubular defect. How loss of ClC-5 leads to reduced receptor expression remains unknown.

Methods
We used biochemical and quantitative imaging data to adapt a mathematical model of megalin traffic in ClC-5 knockout and control cells. Studies in ClC-5 knockout mice were performed to describe the effect of ClC-5 knockout on megalin traffic in the S1 segment and along the proximal tubule axis.

Results
The model predicts that ClC-5 knockout cells have reduced rates of exit from early endosomes, resulting in decreased megalin recycling, surface expression, and half-life. Early endosomes had lower [Cl−] and higher pH. We observed more profound effects in ClC-5 knockout cells expressing the pathogenic ClC-5E211G mutant. Alterations in the cellular distribution of megalin in ClC-5 knockout mice were consistent with delayed endosome maturation and reduced recycling. Greater reductions in megalin expression were observed in the proximal tubule S2 cells compared with S1, with consequences to the profile of protein retrieval along the proximal tubule axis.

Conclusions
Delayed early endosome maturation due to impaired acidification and reduced [Cl−] accumulation is the primary mediator of reduced proximal tubule receptor expression and tubular proteinuria in Dent disease. Rapid endosome maturation in proximal tubule cells is critical for the efficient recovery of filtered proteins.
Clinical and Genetic Characteristics of CKD Patients with High-Risk APOL1 Genotypes
Authors: Elliott Mark D. , Marasa Maddalena , Cocchi Enrico , Vena Natalie , Zhang Jun Y. , Khan Atlas , Krishna Murthy Sarath , Bheda Shiraz , Milo Rasouly Hila , Povysil Gundula , Kiryluk Krzysztof , Gharavi Ali G. 
Published: February 2023

Significance Statement

APOL1 high-risk genotypes confer a significant risk of kidney disease, but variability in patient outcomes suggests the presence of modifiers of the APOL1 effect. We show that a diverse population of CKD patients with high-risk APOL1 genotypes have an increased lifetime risk of kidney failure and higher eGFR decline rates, with a graded risk among specific high-risk genotypes. CKD patients with high-risk APOL1 genotypes have a lower diagnostic yield for monogenic kidney disease. Exome sequencing revealed enrichment of rare missense variants within the inflammasome pathway modifying the effect of APOL1 risk genotypes, which may explain some clinical heterogeneity.

Background

APOL1 genotype has significant effects on kidney disease development and progression that vary among specific causes of kidney disease, suggesting the presence of effect modifiers.

Methods
We assessed the risk of kidney failure and the eGFR decline rate in patients with CKD carrying high-risk (N=239) and genetically matched low-risk (N=1187) APOL1 genotypes. Exome sequencing revealed monogenic kidney diseases. Exome-wide association studies and gene-based and gene set–based collapsing analyses evaluated genetic modifiers of the effect of APOL1 genotype on CKD.

Results
Compared with genetic ancestry-matched patients with CKD with low-risk APOL1 genotypes, those with high-risk APOL1 genotypes had a higher risk of kidney failure (Hazard Ratio [HR]=1.58), a higher decline in eGFR (6.55 versus 3.63 ml/min/1.73 m2/yr), and were younger at time of kidney failure (45.1 versus 53.6 years), with the G1/G1 genotype demonstrating the highest risk. The rate for monogenic kidney disorders was lower among patients with CKD with high-risk APOL1 genotypes (2.5%) compared with those with low-risk genotypes (6.7%). Gene set analysis identified an enrichment of rare missense variants in the inflammasome pathway in individuals with high-risk APOL1 genotypes and CKD (odds ratio=1.90).

Conclusions
In this genetically matched cohort, high-risk APOL1 genotypes were associated with an increased risk of kidney failure and eGFR decline rate, with a graded risk between specific high-risk genotypes and a lower rate of monogenic kidney disease. Rare missense variants in the inflammasome pathway may act as genetic modifiers of APOL1 effect on kidney disease.
ASH2L Controls Ureteric Bud Morphogenesis through the Regulation of RET/GFRA1 Signaling Activity in a Mouse Model
Authors: Zhao Ziyi , Dai Xuantong , Jiang Gengru , Lin Fujun 
Published: February 2023

Significance Statement
Causes of congenital anomalies of the kidney and urinary tract (CAKUT) remain unclear. The authors investigated whether and how inactivation of Ash2l—which encodes a subunit of the COMPASS methyltransferase responsible for genome-wide histone H3 lysine K4 (H3K4) methylation—might contribute to CAKUT. In a mouse model, inactivation of Ash2l in the ureteric bud (UB) lineage led to CAKUT-like phenotypes. Removal of ASH2L led to deficient H3K4 trimethylation, which slowed cell proliferation at the UB tip, delaying budding and impairing branching morphogenesis. The absence of ASH2L also downregulated the expression of Ret, Gfra1, and Wnt11 genes involved in RET/GFRA1 signaling. These findings identify ASH2L-mediated H3K4 methylation as an upstream epigenetic regulator of signaling crucial for UB morphogenesis and indicate that deficiency or dysregulation of these processes may lead to CAKUT.

Background
Ureteric bud (UB) induction and branching morphogenesis are fundamental to the establishment of the renal architecture and are key determinants of nephron number. Defective UB morphogenesis could give rise to a spectrum of malformations associated with congenital anomalies of the kidney and urinary tract (CAKUT). Signaling involving glial cell line–derived neurotrophic factor and its receptor rearranged during transfection (RET) and coreceptor GFRA1 seems to be particularly important in UB development. Recent epigenome profiling studies have uncovered dynamic changes of histone H3 lysine K4 (H3K4) methylation during metanephros development, and dysregulated H3K4 methylation has been associated with a syndromic human CAKUT.

Methods
To investigate whether and how inactivation of Ash2l, which encodes a subunit of the COMPASS methyltransferase responsible for genome-wide H3K4 methylation, might contribute to CAKUT, we inactivated Ash2l specifically from the UB lineage in C57BL/6 mice and examined the effects on genome-wide H3K4 methylation and metanephros development. Genes and epigenome changes potentially involved in these effects were screened using RNA-seq combined with Cleavage Under Targets and Tagmentation sequencing.

Results
UB-specific inactivation of Ash2l caused CAKUT-like phenotypes mainly involving renal dysplasia at birth, which were associated with deficient H3K4 trimethylation. Ash2l inactivation slowed proliferation of cells at the UB tip, delaying budding and impairing UB branching morphogenesis. These effects were associated with downregulation of Ret, Gfra1, and Wnt11, which participate in RET/GFRA1 signaling.

Conclusions
These experiments identify ASH2L-dependent H3K4 methylation in the UB lineage as an upstream epigenetic regulator of RET/GFRA1 signaling in UB morphogenesis, which, if deficient, may lead to CAKUT.
Detection rate of pulmonary tuberculosis by direct and concentrated microscopy techniques with Lowenstein-Jensen Culture as standard: South-South Nigeria Scenario
Authors: Ekom Ndifreke Edem , Anthony Nathaniel Umo , Olajide Joseph Akinjogunla , Adel AE Elahmar , David Arome 
Published: February 2023

Objective: This study seeks to identify a more sensitive smear microscopy method for the detection of Mycobacterium tuberculosis in low-resource centers. Materials and methods: One hundred and forty sputum specimens were collected and direct smears were prepared as the specimen was submitted. The specimens were afterward digested/decontaminated using the modified Petroff’s method. Both smear methods were stained by the Ziehl-Neelsen technique and examined. All specimens (direct and concentrated) were cultured on a Lowenstein-Jensen medium and results were considered the gold standard to calculate sensitivity. Results: Out of 140 specimens, 27 (19%) and 34 (24%) were positive by direct and concentrated methods respectively. The number of culture positives by the direct and concentrated method was 26 (19%) and 31(22%) respectively. The sensitivity of direct and concentrated methods was 92.3% and 100% respectively. The negative culture and contamination rate was minimum with the concentrated method. The diagnostic accuracy of direct and concentrated methods was 88.6% and 97.1%. Conclusion: In summary, results showed concentrated techniques were able to detect more true positive Mycobacterium tuberculosis than the direct smear method. Therefore, the study region with AFB smear microscopy can utilize the concentrated smear method for AFB smear microscopy to improve the case-finding strategy.
A case of polymorphic leukocytoclastic vasculitis associated with renal neoplasia
Authors: Klimenko A. A. , Shostak N. A. , Gaffarova A. S. , Kondrashov A. A. , Schmidt E. I. 
Published: February 2023

Objective: to describe a clinical case of polymorphic leukocytoclastic vasculitis (PLCV) associated with renal neoplasia.Materials and methods. Patient K., a man, 67 y. o., was admitted to the surgical department No. 2 of the N. I. Pirogov State Clinical Hospital No. 1 with cardiac complaints and heart failure decompensation symptoms, severe respiratory insufficiency associated right lower lobe pneumonia. Besides cardiac function evaluation and pneumonia managing there was a conducting of differential diagnostic search to clarify the genesis of ulcerative necrotic rashs among systemic vasculitis, paraneoplastic syndrome including hematologic problems and sepsis.Results. It was no data for systemic connective tissue diseases and systemic vasculitis during clinical examination and immunological diagnostics. On contrast-enhanced multispiral computed tomography of abdomen and retroperitoneal space there was latent malignant neoplasia of left kidney Т2аN1M0. PLCV was considered to paraneoplastic syndrome associated with malignancy. Due to the progression of vasculitis and the patient’s refusal of surgical treatment was prescribed GC 0.5 mg / kg / day as a result positive dynamics was noted.Conclusion. This clinical case demonstrates necessity of providing examination aimed at malignancy excluding for early neoplasm’s detecting for patients with vasculitis.
La piel transparente. La metáfora del cristal en la arquitectura y el diseño de mobiliario moderno.
Authors: Lage Veloso Carmen 
Published: February 2023

Este artículo revisa los valores de los que es portadora la transparencia y su influencia en la arquitectura y el diseño de mobiliario a lo largo del siglo XX. Es un distintivo en los objetos modernos la tendencia a la mínima materialidad: ésta puede alcanzarse bien reduciendo su superficie, o bien su visibilidad. Los objetos transparentes transmiten, a través de su apariencia etérea, connotaciones relativas a su avanzada tecnología. A través de su piel vemos sus entrañas y, debido a esta inmediatez perceptiva, consiguen erigirse poéticamente en perfectos adalides de la virtud y la honestidad. Sin embargo, las declinaciones de esta idea, desde los inicios de la modernidad hasta hoy, son múltiples y diversas. La dimensión metafórica de esta imagen transita a través de claves religiosas, políticas, psicoanalíticas y estéticas. Sinónimo de modernidad, sinceridad, ligereza y levedad, sin duda nos encontramos ante uno de los principios básicos de este milenio.
El enfoque lúdico-comunicativo: una nueva vía para potenciar la interacción oral
Authors: MONTOYA MUÑOZ Gabriela Emma Edith 
Published: February 2023

El objetivo de esta investigación fue aplicar una estrategia didáctica basada en el modelo lúdicocomunicativo para mejorar la interacción oral en inglés. Se trata de un estudio preexperimental aplicado donde se recogieron datos mixtos de estudiantesuniversitarios (n = 45), y sus docentes (n = 2), aplicando dos encuestas. Fueron validados por juicio de expertos y alfa de Cronbach,dando como resultado α = 0.971 y α = 0.894, respectivamente. Los resultados mostraron que los estudiantes potenciaron su interacción oral después de la aplicación del método. No solo comunicándose de manera efectiva durante las clases, sino también dispuesto y emocionado de comunicarse en inglés durante su tiempo libre.
Palabras clave: Expresión oral, métodos de enseñanza, habilidad comunicativa, proceso de interacción educativa.
Investigación colectiva a través de un ambiente virtual de aprendizaje en una maestría en educación en modalidad virtual
Authors: GONZALEZ SILVA Adriana Patricia , FORERO ARIAS Elkin Mauricio , MARTINEZ CONSUEGRA Elvira Elena , DÍAZ ROMERO Jordy Andres , FORERO MONTOYA Juan Manuel , GONZALESZ PEÑUELA Juan Pablo , COBA ALTAMAR Laura Vanessa , TRUJILLO MATIAS Luis Alveiro , BARRETO CADENA Ricardo , ARENAS ARIAS Ruben Dario , FERNÁNDEZ MONDRAGÓN Lady Fernanda , GIL PIÑA Juan Camilo , RAMIREZ  ORTEGA Dayvi Jeanpaul , TAPIAS TOLOZA Norman Ernesto , RIVERA VASQUEZ Jose Gregorio 
Published: February 2023

os avances tecnológicos de las últimas décadas han servido de apoyo para la optimización de procesos en distintas áreas de la sociedad y la educación no es ajena a esta realidad. En efecto, el desarrollo de este trabajo tiene como finalidad evidenciar la investigación colectiva a través de un ambiente virtual de aprendizaje dentro del desarrollo del proyecto de investigación “Influencia de los liderazgos estudiantiles en el contexto social colombiano” en una maestría en educación en modalidad virtual. Inicialmente se presentan los antecedentes en torno a la investigación colectiva a través de ambientes virtuales deaprendizaje, después se analiza el proceso de construcción de la investigación, iniciando con el planteamiento del problema, continuando con el desarrollo del marco teórico, la elaboración de instrumentos, de su aplicación y del análisis de los resultados obtenidos de manera colectiva a través de un ambiente virtual de aprendizaje. Finalmente, se concluye la importancia de las TIC durante el desarrollo del proceso investigación y su relevancia durante la pandemia originada por el COVID 19.
Palabras clave: Ambiente virtual de aprendizaje, investigación colectiva, lider azgo estudiantil, TIC.
Educación inclusiva como alternativa para la educación de la sexualidad en la formación del psicopedagogo en Cuba
Authors: MOSQUEDA PADRÓN Lianne , DIAZ CANTILLO Celia , RIVAS AVILA Yorlan 
Published: February 2023

La educación sexual integral refiere la necesidad de su carácter inclusivo, equitativo y diverso. La universidad, al igual que el resto de las educaciones, se caracteriza por la diversidad de los estudiantes y el claustro que la integran. Constituye un reto fundamental la atención a todos y todas teniendo en cuenta las individualidades que caracterizan su personalidad sin motivos de exclusión, para lograr la efectividad de la educación en este contexto. El objetivo constituye argumentar la efectividad de la educación inclusiva para la educación de la sexualidad. Como resultado se proponen criterios para el logro de la educación inclusiva universitaria y la educación de la sexualidad en la formación del psicopedagogo en Cuba, teniendo en cuenta los desafíos y oportunidades de la inclusión y la necesidad de su práctica sobre la base de la aceptación de las diferencias como potencialidad. Palabras clave: Educación inclusiva, for mación del psicopedagogo, educación de la sexualidad, enfoque integral de la educación sexual.
Comparison of Four Different Polymeric Adsorbents as Clean-up Agents for Pesticide Analysis in Tea with LC MS/MS
Authors: ÖZCAN Nihat 
Published: February 2023

Previously published studies indicate that tea (Camellia sinensis) contains essential oils, flavonoids, phenolics, lipids, natural pigments, sugars, and oligosaccharides. These essential biomolecules in Camellia sinensis cause serious problems in the determination of pesticide residues. High amount of co extractives can exhibit chromatographic characteristics similar to some pesticides, which may cause serious matrix effects and significant interference in mass spectrometry analysis. In this study, we compared four polymeric resins as clean-up sorbents for the determination of 216 pesticide residues in tea by a high performance liquid chromatography triple quadrupole mass spectrometry. styrene-divynilbenzene (Diaion HP20), Polyamide 6, Polyvinylpolypyrrolidone (PPVP), and Amberlite XAD 7 were used as clean-up sorbents instead of PSA. However,to evaluate the effectiveness of the adsorbents, recovery studies were carried out using these adsorbents. In addition, GC-MS analysis was also performed to see the ability of these adsorbents to remove co-extracts. According to the recovery results, when the acceptable limit was accepted as 60-140%, it was determined that the resin that gave the best results with 170 pesticides was polyamide. Diaion was the second resin with 166 pesticides, while XAD, PSA which was used as control group and PPVP were determined as the third, fourth, and fifth resins with very close values of 159, 155, and 152 pesticides, respectively. According to GC-MS total ion analysis, it was observed that PSA gave the chromatogram with the least co- extract, while it was observed that PSA was the worst adsorbent in removing caffeine, one of the main bioactive compounds in tea. XAD-7 and Polyamide were found to be the best adsorbents in removing caffeine.
Projeto Reconstruindo a Cidadania: Pintura Imobiliária
Authors: Zancan Evelise Chemale , Behenck Cardoso Isadora , De Souza  Soares da Rosa Gabriela , Frank Serafim Éder 
Published: February 2023

A capacitação continuada dos trabalhadores permite minimizar os erros e retrabalhos nas atividades nos setores da construção civil. Entretanto, a mão de obra nem sempre é qualificada, além da escassez de profissionais com conhecimento dos produtos e técnicas de execução. Segundo o Sinduscon-SC (2022) o setor da construção civil demonstra relevância na economia nacional, cujos os resultados positivos traduzem numa maior geração de empregos e renda para o país. Neste sentido, o objetivo do projeto “Reconstruindo a Cidadania” é promover um curso capacitação de pintura imobiliária para qualificar e incluir jovens e adultos no mercado de trabalho. Este projeto fez parte do Edital 358/2020 de extensão da UNESC em parceria com a Farben Tintas S.A e o Bairro da Juventude. De acordo com os Objetivos de Desenvolvimento Sustentável (ODS), afim de atingir a Agenda 2030 no Brasil, o projeto enquadra-se no Princípio 4 e 8, para oportunizar empregos, bem como a promoção de oportunidades de aprendizagem ao longo da vida para os cidadãos. A execução do projeto Reconstruindo a Cidadania foi realizado por meio de atividades teóricas e práticas de pintura, fortalecendo assim, a atuação da Universidade, junto com os seus parceiros, na comunidade a qual está inserida.
EFEKTIVITAS PENGGUNAAN APLIKASI GOOGLE CLASSROOM DALAM PELAKSANAAN KEGIATAN BELAJAR DARI RUMAH PADA MASA PANDEMI COVID-19 DI MI ASIH PUTERA
Authors: Aulia Pirda , Ramdhan Dadan F. , Pratiwi Inne Marthyanne 
Published: February 2023

Adanya wabah Covid-19 menyebabkan kegiatan belajar mengajar di sekolah terhambat, sehingga tenaga pendidik harus menemukan langkah yang tepat agar dapat memenuhi hak peserta didik dengan semestinya. Penelitian ini bertujuan untuk mendeskripsikan teknis penggunaan google classroom, efektivitas penggunaan google classroom, serta kendala dalam penggunaan google classroom. Metode yang digunakan yaitu deskriptif dengan pendekatan kuantitatif. Teknik pengumpulan data yang digunakan yaitu angket dan wawancara. Penelitian ini berlokasi di MI Asih Putera Kota Cimahi. Hasil yang diperoleh dalam penelitian ini yaitu penggunaan google classroom pada kegiatan belajar dari rumah di MI Asih Putera menitikberatkan pada pengumpulan tugas dan penilaian, materi disampaiakan melalui video conference berbantu aplikasi lain, adapun materi tambahan disampaikan melalui video pembelajaran yang dapat diakses pada laman google classroom. Tingkat efektivitas penggunaan google classroom diukur melalui enam indikator, berdasarkan pengukuran indikator tersebut, diperoleh hasil 78,7% yang menunjukan sebagian besar, artinya penggunaan google classroom pada kegiatan belajar dari rumah di MI Asih Putera dapat dikatakan cukup efektif. Kendala dalam penggunaan google classroom dialami oleh peserta didik, yaitu kesulitan ketika akan mengunggah tugas berupa video atau voice note, sehingga tugas dikirim melalui aplikasi lain.
Kata Kunci: belajar dari rumah, efektivitas, google classroom
PENGGUNAAN MEDIA AUDIO VISUAL UNTUK MENINGKATKAN PEMAHAMAN SISWA
Authors: Zahro  , Firdausi Rofiqoh 
Published: February 2023

Penelitian ini dilatar belakangi oleh rendahnya pemahaman siswa dibuktikan dengan hasil belajar, serta kurangnya partisipan siswa. Tujuan dari penelitian ini meningkatkan pemahaman siswa dan aktivitas belajar siswa pada Pembelajaran Tematik Materi Alat Indera Pendengaran di Kelas 4 di MI Diponogoro Srimulyo–Dampit. Jenis Penelitian yang digunakan dalam penelitian ini adalah Penelitian Tindakan Kelas (PTK) dengan pendekatan Campuran ( Mixed Approach), menggunakan metode Conqurent Embedded. Dalam Pengumpulan data peneliti menggunakan instrumen tes kognitif, wawancara, observasi, dokumentasi. Pemahaman siswa kelas 4 yang dibuktikan dengan hasil belajar terdiri dari 27 siswa, dari hasil tes menunjukan bahwa pada siklus I Presentase ketuntasannya mencapai 69,6%. Pada siklus II Mengalami peningkatan yang cukup signifikan ditunjukan dengan rata-rata kelas yang diperoleh yaitu 81,5 dengan presentase ketuntasan belajar sebesar 92,5%. Aktivitas siswa tergambarkan dalam rubrik penilaian aktivitas siswa, yakni sebelum penggunaan media audio visual 72%, siklus I 85% siklus II 95%. Sehingga dapat disimpulkan bahwa melalui Penggunaan Media Audio Visual dapat meningkatkan aktivitas siswa dan pemahaman siswa pada Pembelajaran Tematik Materi Alat Indera Pendengaran di Kelas 4 MI Diponogoro Srimulyo –Dampit.