We have identified a rare BCR-ABL chimaeric gene with multiplex and nested RT-PCR in a patient with an unusually aggressive chronic myeloid leukaemia. cDNA sequencing showed an in-frame rearrangement with a breakpoint in BCR exon e13 (b2) and fusion with ABL exon 3 following skipping of the entire ABL exon a2. These data confirm the heterogeneity of breakpoints in BCR-ABL rearrangements.
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http://dx.doi.org/10.1159/000064701 | DOI Listing |
J Surg Case Rep
January 2025
Department of Otolaryngology-Head and Neck Surgery, King Fahd Specialist Hospital, Dammam 32253, Saudi Arabia.
Isolated maxillary fungal pathologies involve a variety of clinical entities. These include invasive and non-invasive variants, where each has a unique pathogenesis, clinical manifestation, and approach for management. The aim of this case series is to investigate the several ways that fungal infections of the maxillary sinus might present, with the approach to diagnose and manage these conditions.
View Article and Find Full Text PDFGastroenterol Rep (Oxf)
January 2025
Department of Health Sciences, University of Piemonte Orientale, Novara, Italy.
Intrahepatic cholangiocarcinoma (iCCA) is an aggressive liver malignancy that arises from second-order biliary epithelial cells. Its incidence is gradually increasing worldwide. Well-known risk factors have been described, although in many cases, they are not identifiable.
View Article and Find Full Text PDFCureus
December 2024
Internal Medicine, Cooper University Hospital, Camden, USA.
This case report presents a complex and challenging scenario of recurrent () bacteremia and tricuspid valve endocarditis in a 77-year-old male patient with multiple comorbidities and indwelling medical devices. The patient's medical history was significant for T4 paraplegia, neurogenic bladder requiring a chronic indwelling suprapubic catheter, heart block status post-permanent pacemaker placement, type 2 diabetes mellitus, chronic kidney disease, and chronic sacral wounds. The case highlights the difficulties in managing antibiotic-resistant infections, particularly in patients with implantable devices and chronic wounds.
View Article and Find Full Text PDFAutism Res
January 2025
Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.
Catatonia is a highly morbid psychomotor and affective disorder, which can affect autistic individuals with and without intellectual disability. Catatonic symptoms are treatable with pharmacotherapy and electroconvulsive therapy, but the longitudinal effectiveness of these treatments in autistic individuals has not been described. We conducted a prospective observational cohort study of patients with autism and co-morbid catatonia who received outpatient care in a specialized outpatient clinic from July 1, 2021 to May 31, 2024.
View Article and Find Full Text PDFCancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
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