A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner's syndrome, and a large abdominal mass arising from the pelvis. Magnetic resonance and positron emission tomography imaging revealed (A) a 14 cm heterogeneous enhancing mass, abutting the left kidney with standardised uptake value max = 2.
View Article and Find Full Text PDFIn the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited.
View Article and Find Full Text PDFSomatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations.
View Article and Find Full Text PDFBackground: Consensus clinical diagnostic criteria for neurofibromatosis type I (NF1) include café-au-lait macules and skinfold freckling. The former are frequently the earliest manifestation of NF1, and as such are of particular significance when assessing young children at risk of the condition. A phenotype of predominantly spinal neurofibromatosis has been identified in a small minority of families with NF1, often in association with a relative or absolute lack of cutaneous manifestations.
View Article and Find Full Text PDFObjectives: Neurofibromatosis type I (NF1) is a multisystem neurocutaneous disorder with varied musculoskeletal manifestations. Dural ectasia is a known association, whilst pedicular anomalies have been described, although not as frequently as other skeletal manifestations. However, reports of pedicular and other spinal clefts or fractures in combination with dural ectasia in NF1 are scarce.
View Article and Find Full Text PDFPurpose: Osteoporotic vertebral fractures are frequently asymptomatic. They are often not diagnosed clinically or radiologically. Despite this, prevalent osteoporotic vertebral fractures predict future osteoporotic fractures and are associated with increased mortality and morbidity.
View Article and Find Full Text PDFInt J Low Extrem Wounds
September 2006
Charcot neuroarthropathy is a devastating consequence of diabetes, requiring early identification and immediate management. A differentiation should be made from osteomyelitis and other pathologies. The authors describe a case of Charcot foot with radiological findings of complete fragmentation of the calcaneum.
View Article and Find Full Text PDFVertebral compression fractures are common in elderly populations and in particular in postmenopausal women as a consequence of osteoporosis. Percutaneous vertebroplasty and kyphoplasty are minimally invasive procedures that are increasingly used to treat persistent or severe acute pain from these fractures. Vertebroplasty works by augmenting the weak osteopenic vertebrae with polymethylmethacrylate (PMMA) bone cement and thus preventing further microfractures and associated pain.
View Article and Find Full Text PDFObjective: The sesamoid index was originally described as an aid to the diagnosis of acromegaly. We performed this study to assess the value of the thumb sesamoid index in the diagnosis of psoriatic arthropathy.
Design: Retrospective measurement of the sesamoid index (length x width of the medial thumb sesamoid), along with the age and sex were recorded for patients as described below.
Paget's disease of bone is one of the most common diseases to affect bone, yet it is rare before the age of 50. The etiology of the condition remains unproven. Paget's disease of bone has become less common, less severe, and less extensive in recent decades.
View Article and Find Full Text PDF© LitMetric 2025. All rights reserved.