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Gardner syndrome (GS) is a form of familial adenomatous polyposis (FAP) and is characterized by colonic polyposis, osteomas, and soft-tissue tumors. Desmoid tumors (DT) are lesions of mesenchymal origin and are an extra-colonic manifestation of GS. Gardner-associated fibroma (GAF) is considered to be a benign soft-tissue lesion related to DT and FAP. Here we present a case of an 18-year-old female patient with a huge lump in her right thoracic cavity and another lump located in her left lumbar muscles who was diagnosed with GS through a colonoscopy and through gene mutation detection. The patient underwent a surgical resection of the right thoracic tumor. Three months later, the left waist lump underwent medical treatment with tamoxifen and celecoxib and was monitored using computed tomography (CT). Subsequently, colonoscopy screening was performed annually to prevent colorectal cancer. GAF is frequent in GS, and such a huge GAP in the thorax is very rare, with few cases reported in the literature. Patients with GS must be closely monitored, and clinical and imaging examinations must be performed to detect any signs of tumors.
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Neurology
October 2025
Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, WA.
Background And Objectives: Neuroimaging findings in immune effector cell-associated neurotoxicity syndrome (ICANS) have not been systematically described. We created the chimeric antigen receptor (CAR) T-cell Neurotoxicity Imaging Virtual Archive Library (CARNIVAL), a centralized imaging database for children and young adults receiving CAR T-cell therapy. Objectives of this study were to (1) characterize neuroimaging findings associated with ICANS and (2) determine whether specific ICANS-related neuroimaging findings are associated with individual neurologic symptoms.
View Article and Find Full Text PDFInd Psychiatry J
July 2025
Department of Dermatology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.
Brain
August 2025
Research & Development Department, Chiesi Farmaceutici, Largo Francesco Belloli 11/a, 43122 Parma PR, Italy.
Emerging evidence is challenging the long-standing notion that Alzheimer's disease (AD) is caused by increased γ-secretase function and overproduction of 42-amino acid amyloid-beta (Aβ42). Cerebrospinal fluid levels of soluble monomeric Aβ42 in AD are reduced to about half of those in healthy individuals and drop even further at dementia onset in genetic forms (APP, PSEN1, PSEN2 mutations) and in Down's syndrome. Findings supporting a revised AD pathophysiology include: (1) ∼90% of pathogenic PSEN1 mutations reduce γ-secretase activity and Aβ42 production; (2) lower γ-secretase activity is correlated with lower soluble Aβ42 levels, earlier onset of dementia, worse cognition, and faster progression; (3) higher soluble Aβ42 levels associate with preserved cognition and delayed dementia in amyloid-positive sporadic and familial AD; (4) apparent cognitive benefits from anti-amyloid monoclonal antibodies may involve increased soluble Aβ42 levels; and (5) monomeric Aβ42 supports memory and other functions akin to a neuropeptide.
View Article and Find Full Text PDFJ Hand Surg Am
August 2025
Department of Orthopaedic Surgery, Geisinger Musculoskeletal Institute, Geisinger Commonwealth School of Medicine, Danville, PA. Electronic address:
Purpose: Indications and techniques for biopsy to detect amyloid deposition during carpal tunnel release are evolving. Despite the popularity of endoscopic carpal tunnel release (ECTR), there is concern that this technique may be less able to detect amyloid. Our purpose was to compare the incidence of amyloid deposition detected during ECTR using two different biopsy sources: tenosynovial tissue and antebrachial fascia of the distal forearm.
View Article and Find Full Text PDFJ Craniovertebr Junction Spine
July 2025
Department of Neurological Surgery, University of Pittsburgh Medical Center, Pittsburgh, PA.
Instability of the occipitocervical junction may compress neural elements, resulting in progressive disability. After the technique was developed to correct for thoracolumbar scoliosis, the construct was developed for chin-on-chest deformity at the cervicothoracic junction as a similar three-rod approach. Demonstrated is a four-rod iteration utilized to stabilize the occipitocervical junction and correct condylar instability, termed the technique.
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