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Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications.
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Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.
BACKGROUND Limb-girdle muscular dystrophy recessive 1 (LGMDR1) is an autosomal recessive degenerative muscle disorder characterized by progressive muscular weakness caused by pathogenic variants in the CAPN3 gene. Desmoplastic small round cell tumors (DSRCT) are ultra-rare and aggressive soft tissue sarcomas usually in the abdominal cavity, molecularly characterized by the presence of a EWSR1::WT1 fusion transcript. Mouse models of muscular dystrophy, including LGMDR1, present an increased risk of soft tissue sarcomas.
View Article and Find Full Text PDFA case of neuron-derived neurotrophic factor-positive, syphilis-related membranous nephropathy that achieved spontaneous remission.
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Department of Medicine and Clinical Science, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-Ku, Fukuoka, 812-8582, Japan.
Neuron-derived neurotrophic factor (NDNF) was discovered as a target antigen in membranous nephropathy (MN) caused by syphilis. However, there have been few reports of NDNF-positive MN in Japan. A 19-year-old female patient was admitted to our hospital with nephrotic syndrome and acute kidney injury.
View Article and Find Full Text PDFHigher education staff development: a need-oriented approach based on survey research.
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Faculty of Civil Engineering and Resource Management, AGH University of Krakow, Krakow, Poland.
Continuous professional development of university employees is crucial to implementing the mission of higher education institutions. University staff work includes various activities related to teaching, research studies, and cooperation with the industrial sector. It motivated authors to identify crucial areas and skills that should be developed at the academic level.
View Article and Find Full Text PDFStrategic model for integrating biogas a framework for sustainable energy integration in agro-industries.
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Industrial and Systems Engineering Department, Institut Teknologi Sepuluh Nopember, Surabaya, Indonesia.
The framework of the methodology presented in this study is an effort to integrate and optimize the agro-industry sector, especially energy in biogas. In this study, the technique of the system in functional analysis is shown systematically to translate various energy requirements in the factory as criteria for performance and functional design to be integrated, optimized, and energy efficient. The case study results indicated that biogas power plants, with a capacity of 1.
View Article and Find Full Text PDFA stable combination of non-stable genes outperforms standard reference genes for RT-qPCR data normalization.
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Laboratoire de Recherche en Sciences Végétales, Equipe Génomique et Biotechnologie des Fruits, UMR 5546, CNRS, UPS, Toulouse INP, Université de Toulouse, Toulouse, France.
Gene expression profiling is of key importance in all domains of life sciences, as medicine, environment, and plants, for both basic and applied research. Despite the emergence of microarrays and high-throughput sequencing, qPCR remains a standard method for gene expression analyses, with its data normalization step being crucial for ensuring accuracy. Currently, the most widely used normalization method is based on the use of reference genes, assumed to be stably expressed across all experimental conditions.
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