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[Infantile rhabdomyofibrosarcoma with EGFR kinase domain duplication: a clinicopathological analysis of three cases].
Zhonghua Bing Li Xue Za Zhi
February 2025
Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan 528000, China.
To investigate the clinicopathological and genetic features of infantile rhabdomyofibrosarcoma (IRFS) with EGFR kinase domain duplication (EGFR-KDD). The clinical, morphological and immunohistochemical features of three IRFS with EGFR-KDD diagnosed from January 2022 to January 2024 at Department of Pathology, Foshan Traditional Chinese Medicine Hospital, Foshan, China were retrospectively analyzed using PCR or next generation sequencing technique; and related literature was reviewed. There were 1 male and 2 females, aged at presentation ranging from 1 to 4 years.
View Article and Find Full Text PDFTransomental hernia resulting in a closed loop small bowel obstruction: delayed presentation following paediatric blunt abdominal trauma.
BMJ Case Rep
January 2025
General Surgery, Toowoomba Hospital, Toowoomba, Queensland, Australia.
While internal hernias are rare in the paediatric population, it should be considered as a cause for an acute abdomen following blunt trauma. Internal hernias represent a surgical emergency that requires prompt recognition due to the high risk of strangulation and ischaemia of affected bowel loops. The case of a transomental hernia (TOH) is described in a young girl.
View Article and Find Full Text PDFDevelopment and Treatment of Radicular Cyst in Pediatric Patient-Case Report.
J Clin Med
January 2025
Department of Pediatric Dentistry and Preclinical Dentistry, Wroclaw Medical University, Krakowska 26, 50-425 Wroclaw, Poland.
Inflammation in the periapical area of primary teeth can affect the development and eruption of permanent teeth. In an asymptomatic course, they are detected accidentally during routine examinations. In such cases, they often reach significant dimensions and cause irreversible changes.
View Article and Find Full Text PDFEvidence Suggesting That Alzheimer's Disease May Be a Transmissible Disorder.
Int J Mol Sci
January 2025
National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore 308433, Singapore.
Alzheimer's disease (AD) is characterised by progressive neurodegeneration with the formation of amyloid beta (Aβ) plaques and neurofibrillary tau tangles in the brain parenchyma. The causes of AD have been attributed to a combination of age-related changes within the brain as well as genetic, environmental and lifestyle factors. However, a recent study by Banerjee et al.
View Article and Find Full Text PDFGenomic Insights into Blood Pressure Regulation: Exploring Ion Channel and Transporter Gene Variations in Jordanian Hypertensive Individuals.
Medicina (Kaunas)
January 2025
Department of Biotechnology and Genetic Engineering, Jordan University of Science and Technology, Irbid 22110, Jordan.
: Hypertension (HTN) constitutes a significant global health burden, yet the specific genetic variant responsible for blood pressure regulation remains elusive. This study investigates the genetic basis of hypertension in the Jordanian population, focusing on gene variants related to ion channels and transporters, including , , , , , , , , and . : This research involved 200 hypertensive patients and 224 healthy controls.
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