In spite of the general affection of the greater curvature of the stomach, there were no dyspeptic manifestations, pains in the upper half of the stomach were not related to meals, 'and the stool remained unchanged. The main characteristic of the clinical picture was the distribution of the tumor process to the diaphragm, which was a reason explaining the complaints about acute pains in the right flank enhancing in the course of movements or deep breaths. No data about any metastatic affection of the skeleton bones, lungs or pleura were received. This case shows the need in the close examination of the diaphragm in the case of the pain syndrome in the right hypochondrium in patients with generalized tumor diseases.
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Jpn J Radiol
January 2025
Department of Radiology, Faculty of Medicine, Oita University, 1-1 Idaigaoka, Hasama-machi, Yufu, Oita, 879-5593, Japan.
We report a case of recurrent abdominal bleeding associated with vascular fragility in a 67-year-old woman with neurofibromatosis type 1 (NF-1). Computed tomography (CT) scan revealed hemorrhagic ascites and a pseudoaneurysm of the sigmoid colon artery, which was suspected to be the source of bleeding. Emergency laparotomy confirmed extremely fragile vessels, requiring repeated surgeries for recurrent bleeding.
View Article and Find Full Text PDFJ Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFSci Rep
January 2025
Division for Neurogeriatrics, Centre for Alzheimer Research, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.
Copy number variation (CNV) of the amyloid-β precursor protein gene (APP) is a known cause of autosomal dominant Alzheimer disease (ADAD), but de novo genetic variants causing ADAD are rare. We report a mother and daughter with neuropathologically confirmed definite Alzheimer disease (AD) and extensive cerebral amyloid angiopathy (CAA). Copy number analysis identified an increased number of APP copies and genome sequencing (GS) revealed the underlying complex genomic rearrangement (CGR) including a triplication of APP with two unique breakpoint junctions (BPJs).
View Article and Find Full Text PDFAn Bras Dermatol
January 2025
School of Public Health and Laboratory Medicine, Hunan University of Medicine, Huaihua, China; Department of Laboratory Medicine, Chronic Disease Research Center, Medical College, Dalian University, Dalian, China. Electronic address:
BMJ Case Rep
January 2025
Orthopaedics, All India Institute of Medical Science - Bhopal, Bhopal, Madhya Pradesh, India.
This case revolves around a mid-childhood boy diagnosed with a chemoresistant chondroblastic osteosarcoma, a rare and aggressive form of bone tumour affecting his left proximal humerus. Histopathological confirmation of chondroblastic osteosarcoma was obtained through core-needle biopsy. Despite initiating cytoreductive neoadjuvant chemotherapy using a vincristine and cyclophosphamide regimen, the tumour exhibited resistance, prompting the decision to proceed with a forequarter amputation.
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