bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing
Authors: Xing Junyue , Wang Hongdan , Xie Yuanyuan , Fan Taibing , Cui Cunying , Li Yanan , Wang Shuai , Gu Weiyue , Wang Chengzeng , Tang Hao , Liu Lin 
Published: May 2023

Abstract
Pulmonary atresia (PA) is a severe cyanotic congenital heart disease. Although some genetic mutations have been described to be associated with PA, the knowledge of pathogenesis is insufficient. The aim of this research was to use whole-exome sequencing (WES) to determine novel rare genetic variants in PA patients. We performed WES in 33 patients (27 patient–parent trios and 6 single probands) and 300 healthy control individuals. By applying an enhanced analytical framework to incorporate de novo and case–control rare variation, we identified 176 risk genes (100 de novo variants and 87 rare variants). Protein‒protein interaction (PPI) analysis and Genotype-Tissue Expression analysis revealed that 35 putative candidate genes had PPIs with known PA genes with high expression in the human heart. Expression quantitative trait loci analysis revealed that 27 genes that were identified as novel PA genes that could be affected by the surrounding single nucleotide polymorphism were screened. Furthermore, we screened rare damaging variants with a threshold of minor allele frequency at 0.5% in the ExAC_EAS and GnomAD_exome_EAS databases, and the deleteriousness was predicted by bioinformatics tools. For the first time, 18 rare variants in 11 new candidate genes have been identified that may play a role in the pathogenesis of PA. Our research provides new insights into the pathogenesis of PA and helps to identify the critical genes for PA.
SrMg2Ga2with ThCr2Si2-type structure
Authors: Reimann Maximilian Kai , Matar Samir F. , Pöttgen Rainer 
Published: May 2023

AbstractThe gallide SrMg2Ga2was obtained by direct reaction of the elements in a sealed tantalum ampoule. Single crystals were grown by slowly cooling the sample within a muffle furnace. The SrMg2Ga2structure was refined from single crystal X-ray diffractometer data:I4/mmm,a= 450.52(7),c= 1169.39(18) pm, wR2 = 0.0349, 164F2values, 11 variables. The magnesium and gallium atoms build up a three-dimensional [Mg2Ga2] network which is composed of layers of edge-sharing MgGa4tetrahedra with 280 pm Mg–Ga. Adjacent layers are condensed by Ga–Ga bonding (253 pm). The strontium atoms fill large Ga8Mg8cages. Electronic structure calculations within Density Functional Theory (DFT) show charge transfers from Sr and Mg to Ga with ionocovalent behavior. The electronic density of states is dominated by Ga states and reveals metallic behavior. The chemical bonding is strong with dominant Mg–Ga and Ga–Ga mixing.
Stable kinetochore‐microtubule attachment requires loop‐dependent Ndc80‐Ndc80 binding
Authors: Polley Soumitra , Müschenborn Helen , Terbeck Melina , De Antoni Anna , Vetter Ingrid R , Dogterom Marileen , Musacchio Andrea , Volkov Vladimir A , Huis in 't Veld Pim J 
Published: May 2023

AbstractDuring cell division, kinetochores link chromosomes to spindle microtubules. The Ndc80 complex, a crucial microtubule binder, populates each kinetochore with dozens of copies. Whether adjacent Ndc80 complexes cooperate to promote microtubule binding remains unclear. Here we demonstrate that the Ndc80 loop, a short sequence that interrupts the Ndc80 coiled‐coil at a conserved position, folds into a more rigid structure than previously assumed and promotes direct interactions between full‐length Ndc80 complexes on microtubules. Mutations in the loop impair these Ndc80‐Ndc80 interactions, prevent the formation of force‐resistant kinetochore‐microtubule attachments, and cause cells to arrest in mitosis for hours. This arrest is not due to an inability to recruit the kinetochore‐microtubule stabilizing SKA complex and cannot be overridden by mutations in the Ndc80 tail that strengthen microtubule attachment. Thus, loop‐mediated organization of adjacent Ndc80 complexes is crucial for stable end‐on kinetochore‐microtubule attachment and spindle assembly checkpoint satisfaction.
Pathomorphology of the renal form of lymphoma in cats
Authors: Oriekhova K. , Shchebentovska O. 
Published: May 2023

Lymphoma is one of the most common neoplasias in cats, affecting various organs and tissues. Extranodal lymphoma is characterized by local damage to such organs as the nose, eyes, skin, central nervous system, and kidneys. Cats usually have bilateral kidney damage with possible metastatic damage to the liver and lungs. Statistically, the extranodal type of lymphoma, namely the renal form, is found in 7% to 30% of cases, mainly in cats older than five years. Clinical signs of renal lymphoma are non-specific and variable, typical for acute renal failure, and manifest themselves through general exhaustion, polyuria, polydipsia, and renomegaly. In most cases, the prognosis for lymphoma in cats is cautious. The article describes two clinical cases of outbred cats with a primary renal form of lymphoma. In both cases, the cats were clinically diagnosed with acute kidney injury and treated symptomatically. An ultrasound examination of the cats’ kidneys revealed a sharp increase in their volume and increased echogenicity of the cortical layer with a fine-grained and nodular structure. The cytological picture in fine-needle aspirates from the kidneys was characterized by a massive monomorphic population of lymphoblasts, which exceeded erythrocytes by 2–3 times in diameter. The cytoplasm of the lymphoblastic cells was sparse with large round nuclei with dense chromatin. The cells were mostly uninucleate, with atypical mitoses and moderate cellular atypism. Epithelial cells, which were occasionally visualized between large lymphoblastic cells, had broad vacuolated cytoplasm and a large round nucleus. Express tests for feline leukemia virus showed negative results. Both cats died 7 and 10 days after initiation of treatment, respectively. During the autopsy, sharply enlarged and deformed kidneys were recorded, and the border between the cortical and medullary substances was difficult to differentiate. Irregularly shaped, white tumorous formations were visualized in the cortical layer. Diffuse infiltration of the kidneys’ cortical layer with large monomorphic lymphoblastic elements with large hyperchromic nuclei and narrow cytoplasm was noted histologically. Lymphoblastic cells in a state of vacuolar and hydropic dystrophy were located between the proximal and distal tubules. The lumens were filled with protein mass and desquamated epithelium. The capsule of the kidney glomeruli was slightly thickened and the vessel walls were soaked with plasma proteins. Immunohistochemically, intensive expression of the CD79a marker and high expression of the Ki-67 marker were detected in the examined kidney samples, which indicates the development of diffuse B-cell lymphoma with an unfavourable prognosis.
Hydrogels and conductive hydrogels for implantable bioelectronics
Authors: Sagdic Kutay , Fernández-Lavado Emilio , Mariello Massimo , Akouissi Outman , Lacour Stéphanie P. 
Published: May 2023

AbstractHydrogels are a class of soft materials, which display unique biomimetic properties to biological tissues. Their mechanical properties, high water content, and porosity resemble that of extracellular matrix so that cell growth and proliferation can be reliably supported. In vitro studies report that mechanosensitive cells found in the central nervous system, such as astrocytes and glia, display reduced activation, thus promoting lower foreign body reaction, when cultured on hydrogel substrates of <1-kPa modulus. This observation provides an opportunity to explore whether soft hydrogels should be integrated in or form implantable neural interfaces and offer long-term biointegrated neurotechnologies. This article highlights recent progress in hydrogel materials and associated technologies for the design of implantable bioelectronics. Essential structural, mechanical, and electronical properties of hydrogels and composite hydrogels are briefly reviewed. Manufacturing methods suitable for these multiscale and multifunctional materials are presented. The final section presents hydrogel-based implantable bioelectronics for the brain and outlines current challenges and future opportunities.
Graphical abstract
The Ability to Predict Death in Patients with Acute PE
Authors: Chijik Alexander , Zerdev Michael , Daud Wadie Abu , Sela Yaron , Blum Arnon 
Published: May 2023

Background: Pulmonary emboli (PE) is a life threatening condition that is discovered in many patients only &quot;post mortem&quot;. Adequate and timely detection of PE is crucial, because of the high mortality and morbidity and the sudden unexpected hemodynamic collapse that may occur in patients with PE.
Objectives: To assess the ability to predict clinical outcome of patients with acute PE, using a non-gated computed tomography pulmonary angiography (CTPA), based on the dimensions of the right ventricle.
Methods: A retrospective study that analyzed CTPA images of patients admitted with acute PE during the years 2012-2017 in Baruch Padeh Medical Center. The cohort study included 300 patients with documented acute PE, among them 255 were hospitalized in medical (non-intensive care unit) wards, and 45 were patients were hospitalized in an intensive care unit (ICU).
Results: Among the 45 patients admitted to the ICU, 8% died. Larger RV diameters predicted mortality (OR=10.14, 95% CI [1.09-93.86]) as well as lower systolic and diastolic blood pressure measurements (p=0.001 and 0.01).
Among the 255 patients that were admitted in the Internal Medicine Ward 7% died. Older age (p=0.028), sepsis and cancer (both p&lt;0.001), high WBCs count (p&lt;0.001), and renal failure (p&lt;0.001) predicted death.
Overall, of all 300 patients that were admitted, lower blood pressure (systolic and diastolic) (p&lt;0.001, 0.008), older age (p&lt;0.007), sepsis (p&lt;0.001), cancer (p=0.006), higher WBCs count (p&lt;0.001), and impaired renal function (p&lt;0.001) predicted death among patients admitted with confirmed acute PE.
Conclusions: Clinical parameters and hematological parameters could predict the outcome of patients admitted with acute PE. RV diameter, measured by the non-ECG gated CTPA had an additive predictive value for patients who were hemodynamically unstable on admission and were hospitalized in the ICU.
Management of Antracnosis with Electrochemically Activated Salt Solutions (EASS) on Bean Culture
Authors: Marquez-Blanco María Guadalupe , Meas-Vong Yunny , Z. Guerrero-Aguilar Brenda , Rivero-Montejo Samantha de J. , Contreras-Medina Luis Miguel , Torres-Pacheco Irineo , Guevara-González Ramón Gerardo , González-Chavira Mario Martin , Ortega Adrian Esteban 
Published: May 2023

Common bean (Phaseolus vulgaris L.) is an important crop for food security and for national economics for several countries worlwide. One of the most important factors of risk in common bean production is the fungal disease anthracnose caused by Colletotrichum lindemuthianum, which in some cases, causes complete yield losses; this kind of plant disease is usually managed through the application of chemical products such as fungicides, that are commonly not accepted by society, this rejection is based on the relationship of pesticides with health damage and environmental contamination. In order to help in solving this drawbacks, the present work propose the use of Electrochemically Activated Salt Solutions(EASS) as a safer pathogen control agent in crops due to it have shown an elicitor and biostimulant effect on plants such as tobacco and apple. With this background, this manuscript presented in vitro results of the evaluation of the inhibitory effect for multiple bean pathogens and in vivo results of EASS in the common bean-Colletotrichum pathosystem by in vitro evaluations of the inhibitory effect for multiple bean pathogens and in vivo evaluation of the infection severity and defense activation such as secondary metabolites production and antioxidant activity. EASS presence in growth media had strong inhibitory effect, at beginning of experiment, for some of the evaluated fungi. EASS showed effect against the development of the disease when applied in specific doses to prevent distress in plants.
Ecological Factors Driving Tree Diversity across Spatial Scales in Temperate Forests, Northeast China
Authors: Gu Yue , Zhang Junhui , Ma Wang , Feng Yue , Yang Leilei , Li Zhuo , Guo Yanshuang , Shi Guoqiang , Han Shijie 
Published: May 2023

Species diversity has been shown to be influenced by environmental factors, but the mechanism underlying their relationship remains unclear across spatial scales. Based on field investigation data collected from 3,077 sample plots in temperate forest ecosystems, we compared tree species richness, evenness and dominance at 10 km × 10 km, 30 km × 30 km and 90 km × 90 km spatial scales. Then, we detected the scale dependence of changes in tree species composition on climate, topography and forest structure using variation partitioning and quantified their contribution to tree diversity with gradient boosted models (GBMs) and fitted their relationships. The magnitude of tree richness, evenness and dominance significantly increased with spatial scale. Ecological factors jointly accounted for 24.3%, 26.5% and 38.5% of the variation in tree species composition at the three spatial scales, respectively. Annual mean temperature had a strong impact on tree richness, evenness and dominance and peaked at an intermediate scale. Tree evenness and dominance increased with the variation of temperature but had upper and lower limits. Tree richness obviously increased with annual precipitation on multiple scales and decreased with annual sunshine duration at large spatial scale. Tree richness, evenness and dominance obviously increased with the variation elevation and diameter at breast height at large scales and small scales, respectively. Tree dominance decreased with tree height in a hump at small scale. The dependence of tree diversity on ecological factors increased with spatial scales. Furthermore, different factors exert various controls on tree diversity at different spatial scales, representing a comprehensive mechanism regulating tree diversity.
New Considerations in ACL Surgery
Authors: Baker Hayden P. , Bowen Edward , Sheean Andrew , Bedi Asheesh 
Published: May 2023

➤ Clinicians should be careful to assess for associated injuries including anterolateral complex and medial meniscal ramp lesions or lateral meniscal posterior root tears.➤ Consideration of lateral extra-articular augmentation should be given for patients with >12° of posterior tibial slope.➤ Patients with preoperative knee hyperextension (>5°) or other nonmodifiable risk factors, including high-risk osseous geometry, may benefit from a concomitant anterolateral augmentation procedure to improve rotational stability.➤ Meniscal lesions should be addressed at the time of anterior cruciate ligament reconstruction with meniscal root or ramp repair.
Effect of Various Aspects of Joints on Permeability of Jointed Glacial Till, Northeastern Ohio
Authors: Prvanovic Aleksandar , Shakoor Abdul 
Published: May 2023

ABSTRACT
Glacial till bluffs along Lake Erie's shoreline, northeastern Ohio, contain three sets of joints that influence the hydraulic behavior of till mass like joints in rock influence the hydraulic behavior of rock mass. According to the Unified Soil Classification System, the till classifies as low plasticity silt to low plasticity clay, with a clay content of 36–41 percent. Mineralogically, it consists of quartz, illite, and kaolinite. The joints in till are either open or filled with sand, silt, or both from the overlying lacustrine material or with disintegrated till from the joint walls. We used double-ring infiltration and dye tests to estimate field permeability. Laboratory permeability tests were performed on dry and saturated samples of till material, with manually created joints that were either kept open or filled with sand or disintegrated till material to simulate field conditions. Field and laboratory test results showed that permeability of jointed till depended upon whether the joints were open or filled, the nature of the joint-filling material, and the water content of the till (dry versus saturated) and that permeability generally decreased with increasing test time. Dry samples exhibited a substantially larger decrease in permeability than saturated samples, with the largest decrease occurring during the first 24 hours. Open joints in dry samples collapsed during the test procedure, and the permeability of these samples was generally similar to the permeability of the collapsed till material. Permeability tests on saturated samples with open joints were inconclusive. We present a comparison of field and laboratory test results.
Nado en aguas abiertas en Uruguay: análisis del fenómeno de expansión de la práctica tras la pandemia por Covid-19
Authors: Pedragosa María 
Published: May 2023

Antecedentes: El nado en aguas abiertas en Uruguay ha estado principalmente asociado a competencias de verano. Sin embargo, luego de la imposición de restricciones por la pandemia de Covid-19, se ha observado un aumento de personas aficionadas a la práctica y la misma se ha extendido a todo el año.
Objetivos: Indagar en el fenómeno de expansión del nado en aguas abiertas y en las características y motivaciones de los nadadores antes y después de la pandemia por Covid-19.
Método: Realización y análisis de encuesta digital enviada a nadadores de aguas abiertas.
Resultados: El número de nadadores se ha duplicado luego de las restricciones. La mayoría de los que ya nadaban en aguas abiertas, estuvieron vinculados al nado competitivo en algún momento de su vida mientras que la mayoría de quienes se iniciaron durante la pandemia, no. La motivación actual por la práctica parece estar vinculada a la reconexión con el entorno natural, el bienestar emocional y al encuentro con otros.
Conclusiones: Se demuestra que el alto nivel deportivo no es necesario para el desarrollo de la práctica, aunque tampoco suficiente. Por otra parte, se concluye que el nado en aguas abiertas ha dejado de ser una práctica de verano ligada mayoritariamente a la competición, para ser una práctica con valor en si misma, de disfrute, y extendida a todo el año. El nado en aguas abiertas en Uruguay ha sido resignificado.
Palabras clave: naturaleza, cuerpos de agua, competencias acuáticas, seguridad acuática.
Different susceptibility to the development of hepatocellular carcinoma induced by diethylnitrosamine in female and male C3H mice
Authors: Montagna Daniela Romina , Todero María Florencia , Postma Gabriela , Trigo Roberto , Bernal Alan , Bustuoabad Oscar , Alemán Mercedes , Vermeulen Mónica , Duarte Alejandra , Ruggiero Raúl 
Published: May 2023

Abstract
Histopathological features of hepatocellular carcinoma (HCC) induced by diethylnitrosamine (DEN) in mice displays strong similarities with those seen in humans, including the higher tumor prevalence in males than in females. Previous studies have demonstrated that continual production of the pro-inflammatory IL-6 by Kupffer cells is involved in the initiation and progression of DEN-induced HCC and that estrogen-mediated reduction of IL-6 secretion would decrease its incidence in females. However, the mechanisms by which different IL-6 concentrations affect tumor growth are not entirely understood. In this model, we demonstrated that the increased tumor growth observed in males accompanied significant liver damage and larger chronic inflammatory areas. Most tumors were placed into or close to senescent areas (detected by expression of β-galactosidase), and these areas were more extensive in DEN-treated males than in similarly-treated female mice. Further, different markers of systemic and regional immunosuppression (such as neutrophil-to-lymphocyte ratio, PD-1 expression in CD8 T cells, number of PD-L1 + myeloid-derived suppressor cells, etc.) were significantly higher in males than in females from the time the tumors started their exponential growth, suggesting that immunosuppressive mechanisms could contribute to the accelerated tumor growth observed in males. The relationship between chronic inflammation and immunosuppression has been previously documented. In contrast, little is known about the link between senescence and immunosuppression, raising the possibility that senescence may contribute to tumor growth by mechanisms other than immunological. Comparative studies between susceptible and resistant hosts to chemical carcinogenesis may help to unveil novel therapeutic strategies against cancer.
The maternal history of tribal populations of Chhattisgarh India
Authors: Dixit Shivani , Shrivastava Pankaj , Rana Manisha , Kushwaha Pushpesh , Shrivastava Divya , Kumawat R. K. , Singh Prajjval Pratap , Tiwary Sachin K. , Chauhan Neeraj K. , Chaubey Gyaneshwer 
Published: May 2023

Abstract

The central region of India is incredibly rich in tribal heritage. It is the most frequent Indian state in terms of tribal population. Understanding the genetic history of the tribal population of India may add detailed information about various demographic processes, including social upliftment. However, to understand these microevolutionary processes, high-resolution genetic analysis is warranted. Therefore, we have used cutting-edge Next-generation sequencing (NGS) techniques and sequenced the mitogenomes of 25 random samples from two major (Gond and Kanwar) tribal populations for complete mitogenome analysis. We aimed to understand the initial peopling of Chhattisgarh from a maternal perspective. The complete genome sequencing enabled us to identify several novel sub-haplogroups. Our results suggested an early expansion and proliferation of maternal ancestry rooted in the time of initial settlement of the subcontinent, which has reached near saturation during 25-30Kya. At the background of founding lineages M and N, we identified maternal haplogroups M2, R5 and U2 as three basal founding haplogroups of this region. Overall, we suggest a high effective (Ne) maternal population in Central India during 25Kya, sustained during the Last Glacial Maximus(LGM).