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A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Jpn J Clin Oncol
January 2025
Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
View Article and Find Full Text PDFPoint-of-care ultrasound in the diagnosis of hepatic gas gangrene.
J Ultrasound
January 2025
Argentinian Critical Care Ultrasonography Association (ASARUC), Buenos Aires, Argentina.
Hepatic gas gangrene (HGG) is a rare but life-threatening condition typically caused by anaerobic bacteria such as Clostridium perfringens, though Gram-negative bacteria like Escherichia coli and Klebsiella species have also been implicated. Traditionally diagnosed via computed tomography (CT), point-of-care ultrasound (POCUS) has emerged as a valuable tool in critical care settings for its non-invasive, bedside utility. We report the case of a 51-year-old female with choledochal syndrome secondary to cholangiocarcinoma who developed HGG following left extended hepatectomy and biliary reconstruction.
View Article and Find Full Text PDFThe efficacy analysis of robotic versus laparoscopic ipsilateral uretero-ureterostomy for upper urinary tract duplications in pediatric population.
Pediatr Surg Int
January 2025
Department of Pediatric Surgery, First Affiliated Hospital, Zhengzhou University, Zhengzhou, 450052, China.
Objective: To review and compare robot-assisted ipsilateral ureteroureterostomy (RALUU) and laparoscopic ipsilateral uretero-ureterostomy (LUU) in terms of efficacy and outcomes.
Methods: Clinical data of 65 children with complete renal ureteral duplication deformity admitted to the First Affiliated Hospital of Zhengzhou University from January 2015 to December 2022 were collected. Among these, 42 patients underwent laparoscopic ureteroureterostomy (LUU), designated as the LUU group, while 23 patients received robot-assisted laparoscopic ureteroureterostomy (RALUU), designated as the RALUU group.
Finding My Voice by Advocating for Others: The Case for a Chief Resident of Diversity, Equity, and Inclusion in Emergency Medicine.
Ann Emerg Med
January 2025
Department of Emergency Medicine, The Warren Alpert Medical School of Brown University, Providence, RI.
Cognitive behavioral therapy for adolescents with eating disorders, with particular regard to clinical perfectionism.
Psychiatr Pol
October 2024
Katedra Psychologii Klinicznej i Psychoprofilaktyki, Instytut Psychologii, Uniwersytet Szczeciński.
Eating disorders are a considerable and prevalent problem among adolescents. Due to their significant adverse health consequences, it is of key importance to examine available treatment options and their effects. Despite the shared criteria for eating disorders in adolescents and adults, the diagnostic and therapeutic processes in the former require distinct specialist interventions, including the entire family environment.
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