Publications by authors named "Warfield A"

Rationale And Objectives: Competency in imaging is essential for physicians to diagnose and manage disease. Previously, the authors introduced radiology education in the anatomy lab. The present study transitioned the radiology education to the classroom with the primary goal of increasing engagement and clinical relevance.

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We present the case of a patient with Alström syndrome who was found to have evidence of a prothrombotic state on autopsy after sudden cardiac death. To the best of our knowledge, this case of persistent prothrombotic milieu is the first described in a patient with Alström syndrome.

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Alzheimer's disease (AD) patients exhibit progressive disruption of entrained circadian rhythms and an aberrant circadian input pathway may underlie such dysfunction. Here we examine AD-related pathology and circadian dysfunction in the APPSwe-Tau (TAPP) model of AD. We show these mice exhibit phase delayed body temperature and locomotor activity with increases around the active-to-rest phase transition.

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Article Synopsis
  • Fabry disease (FD) is a genetic disorder that leads to the accumulation of fats in the body, causing heart issues such as bradyarrhythmia and atrial fibrillation (AF), which can affect about 16% and 13% of patients, respectively.
  • A systematic review analyzed studies on the incidence of AF and the need for permanent pacemaker (PPM) implantation in adults with FD, finding that age and left ventricular hypertrophy (LVH) are significant risk factors.
  • The review concluded that the evidence on AF and PPM implantation in FD is limited and variable, suggesting that the actual incidence of arrhythmias may be higher than previously recognized.
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Exposure to exogenous particles is of increasing concern to human health. Characterizing the concentrations, chemical species, distribution, and involvement of the stimulus with the tissue microanatomy is essential in understanding the associated biological response. However, no single imaging technique can interrogate all these features at once, which confounds and limits correlative analyses.

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Fabry disease (FD) is a lysosomal storage disorder characterised by a deficiency in the enzyme α-galactosidase A resulting in sphingolipid deposition which causes progressive cardiac, renal, and cerebral manifestations. The case illustrates a patient with FD who died suddenly, and medical examination demonstrated myocardial scarring and prior infarction. Angina is a frequent symptom in FD.

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Research over the last 20 years regarding the link between circadian rhythms and chronic pain pathology has suggested interconnected mechanisms that are not fully understood. Strong evidence for a bidirectional relationship between circadian function and pain has been revealed through inflammatory and immune studies as well as neuropathic ones. However, one limitation of many of these studies is a focus on only a few molecules or cell types, often within only one region of the brain or spinal cord, rather than systems-level interactions.

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Tumefactive fibroinflammatory lesions (TFILs) of the head and neck are rare and benign but locally aggressive lesions. The etiology and pathogenesis of these lesions are unknown. Medical management is regarded the first line of treatment.

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Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ALMS is a multisystem, progressive disease characterised by visual disturbance, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease (NAFLD), renal dysfunction, respiratory disease, endocrine and urologic disorders. Clinical symptoms first appear in infancy with great variability in age of onset and severity.

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Malignant infantile osteopetrosis (MIOP), an autosomal-recessive disorder, is extremely rare, presenting early in life with extreme sclerosis of the skeleton and reduced activity of osteoclasts. It was first described by Albers Schonberg in 1904. Disease manifestations include compensatory extramedullary haematopoiesis at sites such as the liver and spleen, hepatosplenomegaly, anaemia and thrombocytopaenia.

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Synchrotron radiation X-ray fluorescence microscopy is frequently used to investigate the spatial distribution of elements within a wide range of samples. Interrogation of heterogeneous samples that contain large concentration ranges has the potential to produce image artefacts due to the profile of the X-ray beam. The presence of these artefacts and the distribution of flux within the beam profile can significantly affect qualitative and quantitative analyses.

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Carcinosarcomas (CS) are uncommon, highly aggressive, biphasic tumours consisting of both sarcomatous and carcinomatous elements. They appear to originate from a common cell of origin, either via transformation from a single premature precursor or conversion of a mature epithelial cell through an epithelial-mesenchymal transition. CS should be considered a unique cancer subtype with cells typically displaying diffuse mitotic activity and widespread atypical mitoses predisposing to early metastasis and a tendency to local recurrence following resection.

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The Codman ETHISORB Dura Patch is a synthetic, absorbable material whose absorption is complete within approximately 90 days. We report the first case of an unabsorbed Codman Dura patch, in which a patient was presented with nasal obstruction and epistaxis 8 years after pituitary surgery for Cushing's disease.

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Osteomas are the most common benign osteoclastic tumours of the paranasal sinuses. However, nasal cavity and turbinate osteomas are extremely rare. Only nine middle turbinate, three inferior turbinate and one inferior turbinate osteoma cases have been reported to date.

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The authors report a case of amyloidosis-induced macroglossia treated with surgical reduction of the tongue using a keyhole to inverted T method with particular emphasis on the postoperative sequelae. Significant tongue swelling persisted for longer than anticipated requiring tracheostomy to remain in situ for 14 days.

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Background: Alström syndrome is a rare inherited ciliopathy with progressive multisystem involvement. Dilated cardiomyopathy is common in infancy and recurs or presents de novo in adults with high rates of premature cardiovascular death. Although Alström syndrome is characterised by fibrosis in solid organs such as the liver, the pathogenesis of related cardiomyopathy are not clear.

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Eosinophilic angiocentric fibrosis (EAF) is a rare fibroinflammatory disorder with a predilection for upper respiratory tract submucosa. We report a 45-year-old man with progressive unilateral visual loss secondary to a retroorbital soft tissue mass with histological features consistent with EAF. The patient experienced marked improvement in vision after endoscopic optic nerve decompression through sphenoethmoidectomy.

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Article Synopsis
  • The human pituitary tumor transforming gene (hPTTG) is a proto-oncogene linked to tumor growth, regulated by cyclin-dependent kinase 2 (CDC2) and specificity protein 1 (SP1).
  • *In thyroid cells, growth factors like EGF, TGFα, and IGF-1 boost hPTTG expression and phosphorylation, activating key signaling pathways independently of CDC2 and SP1.
  • *Transgenic and knockout mouse models showed that hPTTG influences thyroid cell growth and signaling, suggesting its significant role in promoting cell transformation and growth through autocrine mechanisms.
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Article Synopsis
  • PBF (PTTG-binding factor) is a proto-oncogene linked to breast and thyroid tumors, and researchers created a mouse model to study its effects specifically in the thyroid gland.
  • In PBF-Tg mice, the thyroid gland enlarged significantly with hyperplastic and macrofollicular lesions, while crucial genes for radioiodine therapy showed reduced expression.
  • The study also found that increasing PBF levels corresponded with cell proliferation in both mice and human thyroid tissue, highlighting PBF’s role in thyroid disorders and its potential impact on treatment effectiveness.
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We present a case of an 8-year-old girl with established focal epilepsy, whose fits resolved permanently after excision of a carotid body paraganglioma.

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