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Abdominal hemorrhage and vascular fragility associated with neurofibromatosis type 1.
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 PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J 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 PDFA de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease.
Sci 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 PDFForequarter amputation: a viable approach for salvaging lives in chemoresistant upper limb bone tumours.
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.
View Article and Find Full Text PDFOncocytoma: a rare neoplasm of the caruncle.
BMJ Case Rep
January 2025
Ophthalmology, Madigan Army Medical Center, Tacoma, Washington, USA.
Oncocytoma is a rare benign neoplasm of the glandular tissue, most commonly found in the caruncle of the eye. These lesions have an excellent prognosis and have not been reported to recur after resection from the caruncle. Given the wide range of differentials and potential for malignancy, excision and histopathological examination are recommended to establish the diagnosis and guide proper treatment.
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