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http://dx.doi.org/10.34067/KID.0002732022 | DOI Listing |
Endocrine
January 2025
Centro di Ricerca e Innovazione sulle Patologie Surrenaliche, AOU Careggi, Florence, Italy.
Purpose: To compare functional deficits associated to surgery with those caused by the growth of the head and neck paragangliomas (HNPGLs).
Methods: 72 patients with HNPGLs were included. Patients were divided in group A (49 patients undergoing surgery) and group B (23 patients following a wait and see approach).
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Hematology and Oncology, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatric Metabolism and Inflammatory Diseases, Children's Hospital of Chongqing Medical University, No 136 Zhongshan 2 road, YuZhong district, Chongqing, 400014, China.
Genetic alterations play a pivotal role in leukemic clonal transformation, significantly influencing disease pathogenesis and clinical outcomes. Here, we report a novel fusion gene and investigate its pathogenic role in acute lymphoblastic leukemia (ALL). We engineer a transposon transfection system expressing the TOP2B::AFF2 transcript and introduce it into Ba/F3 cells.
View Article and Find Full Text PDFTransl Psychiatry
January 2025
Department of Genetic Psychology, Faculty of Psychology, Ruhr-University Bochum, Universitätsstraße 150, Bochum, Germany.
Cell-free DNA (cfDNA) is continuously shed by all cells in the body, but the regulation of this process and its physiological functions are still largely unknown. Previous research has demonstrated that both nuclear (cf-nDNA) and mitochondrial (cf-mtDNA) cfDNA levels increase in plasma in response to acute psychosocial and physical stress in males. This study further investigated these findings by testing 31 female participants (16 using oral hormonal contraception and 15 not using oral hormonal contraception), and the results were subsequently compared with those of 16 male participants.
View Article and Find Full Text PDFZhonghua Nei Ke Za Zhi
February 2025
Department of Nephrology, Children's Hospital of Nanjing Medical University, Nanjing210008, China.
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