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https://www.readbyqxmd.com/read/28623408/plexiform-neurofibroma-causing-an-ossifying-subperiosteal-haematoma-a-rare-case-in-the-tibia-of-an-11-year-old-girl
#1
Anton Lavell, Christopher W Jones, Daniel Wong, Peter Counsel, Richard Carey-Smith
Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma causing a rapidly growing tibial mass as a result of subperiosteal haemorrhage, in an 11-year-old girl with previously undiagnosed NF-1. This reflects a precursor of the more mature periosteal ossification seen in cases traditionally termed "subperiosteal cysts". A previously well young girl was referred by her general practitioner with an increasingly large, mildly tender, soft lump on the anterior aspect of her right tibia...
June 16, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28622183/cyclin-d1-is-expressed-in-neoplastic-cells-of-langerhans-cell-histiocytosis-but-not-reactive-langerhans-cell-proliferations
#2
Vignesh Shanmugam, Jeffrey W Craig, Jason L Hornick, Elizabeth A Morgan, Geraldine S Pinkus, Olga Pozdnyakova
Langerhans cell histiocytosis (LCH) is characterized by frequent activating mutations involving the mitogen-activated protein kinase (MAPK) pathway. Therefore, downstream markers of MAPK pathway activation such as cyclin D1 may be useful as novel diagnostic markers of neoplasia in LCH. The goal of this study was to investigate cyclin D1 expression in LCH and reactive Langerhans cell accumulations using immunohistochemistry on archival tissue. All LCH cases tested (39/39) showed cyclin D1 expression in CD1a/Langerin cells...
June 15, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28595451/dependent-erythema-of-the-legs-associated-with-mild-autonomic-nervous-system-dysfunction
#3
Bahar Bahrani, Christopher S Sladden
INTRODUCTION: Dependent erythema or rubor is an erythematous discoloration of the limbs, most commonly associated with peripheral artery disease. We present a case of florid dependent erythema, associated with additional autonomic symptoms. METHODS: Examination and full workup of a 16-year-old healthy girl with an 8-year history of dependent erythema, chronic diarrhea, and mild hyperhidrosis. A literature search was performed to review any similar cases and generate a differential diagnosis...
June 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28574280/current-concepts-in-diagnosis-molecular-features-and-management-of-lobular-carcinoma-in-situ-of-the-breast-with-a-discussion-of-morphologic-variants
#4
Paula S Ginter, Timothy M D'Alfonso
CONTEXT: - Lobular carcinoma in situ (LCIS) refers to a neoplastic proliferation of cells that characteristically shows loss of E-cadherin expression and has long been regarded as a risk factor for invasive breast cancer. Long-term outcome studies and molecular data have also implicated LCIS as a nonobligate precursor to invasive carcinoma. In the past few decades, pleomorphic and florid LCIS have been recognized as morphologic variants of LCIS with more-aggressive histopathologic features, less-favorable biomarker profiles, and more-complex molecular features compared with classic LCIS...
June 2, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28552073/intrastriatal-injection-of-%C3%AE-synuclein-can-lead-to-widespread-synucleinopathy-independent-of-neuroanatomic-connectivity
#5
Zachary A Sorrentino, Mieu M T Brooks, Vincent Hudson, Nicola J Rutherford, Todd E Golde, Benoit I Giasson, Paramita Chakrabarty
BACKGROUND: Prionoid transmission of α-synuclein (αSyn) aggregates along neuroanatomically connected projections is posited to underlie disease progression in α-synucleinopathies. Here, we specifically wanted to study whether this prionoid progression occurs via direct inter-neuronal transfer and, if so, would intrastriatal injection of αSyn aggregates lead to nigral degeneration. METHODS: To test prionoid transmission of αSyn aggregates along the nigro-striatal pathway, we injected amyloidogenic αSyn aggregates into two different regions of the striatum of adult human wild type αSyn transgenic mice (Line M20) or non-transgenic (NTG) mice and aged for 4 months...
May 29, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28549611/successful-short-desensitization-treatment-protocol-with-narrowband-uvb-phototherapy-tl-01-in-polymorphic-light-eruption
#6
A Combalia, C Fernández-Sartorio, X Fustà, D Morgado-Carrasco, S Podlipnik, P Aguilera
INTRODUCTION: Polymorphic light eruption (PLE) is a common idiopathic photodermatosis that typically presents with pruritic papular or papulovesicular lesions on sun-exposed skin between spring and autumn. In many subjects PLE is mild, and can usually be prevented by the use of broad-spectrum topical sunscreens and a gradual increase in sunlight exposure. However, in some individuals, sunlight exposure results in florid PLE and they often benefit from prophylactic desensitization treatment using phototherapy in early spring, an artificial method that induces a "hardening" phenomenon...
May 23, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28538890/florid-cemento-osseous-dysplasia-and-peripheral-giant-cell-granuloma-in-a-patient-with-neurofibromatosis-1
#7
Dmitry José de Santana Sarmento, Sérgio Henrique Gonçalves de Carvalho, José Cadmo Wanderley Peregrino de Araújo, Marianne de Vasconcelos Carvalho, Éricka Janine Dantas da Silveira
We report a 35-year-old mulatto female patient with neurofibromatosis Type 1 who presented with facial asymmetry. The patient had two lesions: florid cemento-osseous dysplasia associated with peripheral giant cell granuloma. She was referred for surgical treatment of the peripheral giant cell granuloma and the florid cemento-osseous dysplasia was treated conservatively by a multidisciplinary team. So far, no changes have been observed in the patient's clinical status. We observed no recurrence of peripheral giant cell granuloma...
March 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28523549/dna-methylation-in-schizophrenia
#8
Lotta-Katrin Pries, Sinan Gülöksüz, Gunter Kenis
Schizophrenia is a highly heritable psychiatric condition that displays a complex phenotype. A multitude of genetic susceptibility loci have now been identified, but these fail to explain the high heritability estimates of schizophrenia. In addition, epidemiologically relevant environmental risk factors for schizophrenia may lead to permanent changes in brain function. In conjunction with genetic liability, these environmental risk factors-likely through epigenetic mechanisms-may give rise to schizophrenia, a clinical syndrome characterized by florid psychotic symptoms and moderate to severe cognitive impairment...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28518222/the-effect-of-initial-molecular-profile-on-response-to-recombinant-interferon-%C3%AE-rifn%C3%AE-treatment-in-early-myelofibrosis
#9
Richard T Silver, Ariella C Barel, Elena Lascu, Ellen K Ritchie, Gail J Roboz, Paul J Christos, Attilio Orazi, Duane C Hassane, Wayne Tam, Nicholas C P Cross
BACKGROUND: Although recombinant interferon-α (rIFNα) effectively treats patients with early myelofibrosis, the effect of driver and high molecular risk (HMR) mutations has not been considered. In this phase 2 study, for the first time, the authors correlate response to rIFNα treatment with driver and HMR mutations. METHODS: Patients were diagnosed using World Health Organization or International Working Group for Myeloproliferative Neoplasms Research and Treatment criteria...
May 18, 2017: Cancer
https://www.readbyqxmd.com/read/28508968/dialysis-disequilibrium-leading-to-posterior-reversible-encephalopathy-syndrome-in-chronic-renal-failure
#10
Pratim Sengupta, Sumanta Biswas
Dialysis disequilibrium syndrome is a neurological adverse effect of acute hemodialysis in advanced uremic patients. Dialysis disequilibrium has a wide spectrum of clinical manifestations starting from subtle uneasiness, confusion, to florid and complex life threatening neurological deficit. In this case study, we present a patient who developed sudden cortical blindness following hemodialysis due to posterior reversible encephalopathy, which is a rare presentation of dialysis disequilibrium syndrome.
November 2016: CEN Case Reports
https://www.readbyqxmd.com/read/28502251/st-john-s-wort-hypericum-perforatum-induced-psychosis-a-case-report
#11
Maria Ferrara, Francesco Mungai, Fabrizio Starace
BACKGROUND: St John's wort (Hypericum perforatum) has been known for centuries for its therapeutic properties and its efficacy as an antidepressant has been confirmed by a growing body of evidence. During the last two decades it has also come to prominence with a wider public, due to advertising efforts across Europe and United States of America. However, its availability without prescription, as an over-the-counter medication, raises some concern regarding its clinical management and unsupervised administration to individuals with psychopathological risks...
May 15, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28469862/myopericarditis-in-a-patient-with-hepatitis-c-and-cryoglobulinemic-renal-disease
#12
Mohamoud A Ali, Waqas Z Kayani, Bradley M Linzie, Gopal V Punjabi, James B Wetmore
Although cryoglobulinemia is a well-appreciated complication of hepatitis C (HC), myopericarditis with resulting pericardial effusion is extremely rare, especially in the absence of a liver transplant. In patients with HC, pericardial effusion with impending tamponade can be a florid and potentially life-threatening manifestation of multiorgan cryoglobulinemic disease.
May 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28446482/secondary-parkinsonism-in-a-patient-of-psychogenic-polydipsia
#13
Rimesh Pal, Liza Das, Pinaki Dutta, Anil Bhansali
A 44-year-old man presented with history of slurring of speech, slowness in activities, abnormal posturing of the upper limbs and drooling of saliva from the mouth. He had a 5-yearlong history of compulsive water drinking, consuming 12-15 L of water every day. He was earlier evaluated for the same and found to have low serum sodium (126 mEq/L). Presently, he was admitted at a primary care facility with fever and altered sensorium. He was found to have serum sodium of 94 mEq/L. His sensorium improved with hypertonic saline infusion; however, after a lucid interval of 48 hours, he developed florid extrapyramidal symptoms...
April 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28429491/dorothy-hodgkin-lecture-2017-bringing-the-human-pancreas-into-focus-new-paradigms-for-the-understanding-of-type-1-diabetes
#14
REVIEW
N G Morgan
Type 1 diabetes affects increasingly large numbers of people globally (including at least half a million children under the age of 14 years) and it remains an illness with life-long and often devastating consequences. It is surprising, therefore, that the underlying aetiology of Type 1 diabetes remains poorly understood. This is largely because the cellular and molecular processes leading to the loss of β cells in the pancreas have rarely been studied at, or soon after, the onset of disease. Where such studies have been undertaken, a number of surprises have emerged which serve to challenge conventional wisdom...
April 20, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28420303/juvenile-papillomatosis-swiss-cheese-disease-of-breast-in-an-adult-male-with-sequential-diagnoses-of-ipsilateral-intraductal-invasive-and-widely-metastatic-carcinoma-a-case-report-and-review-of-the-disease-in-males
#15
Kartik Viswanathan, Brian McMillen, Esther Cheng, Timothy D'Alfonso, Ami Patel, Syed A Hoda
Juvenile papillomatosis of the breast (JPB, also known as Swiss cheese disease) is a rare ailment that typically afflicts young females, and presents as a mass-forming lesion. The lesional mass usually comprises multiple cysts and duct stasis, amid a variety of proliferative and nonproliferative epithelial changes. The proliferative changes include papillary hyperplasia, florid hyperplasia, and papillary apocrine hyperplasia. Concurrent carcinoma (either in situ or invasive) is present in approximately 10% of cases at presentation, and subsequent carcinoma (either in situ or invasive) is diagnosed in about 10% of patients...
April 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28389994/neuroendocrine-tumors-of-the-breast
#16
REVIEW
Daniel W Visscher, Saba Yasir
A small but increasingly recognized and studied subset of breast carcinomas are characterized by neuroendocrine (NE) differentiation. As with nearly all forms of breast neoplasia, NE tumors are characterized by considerable heterogeneity in microscopic appearance and clinical aggressiveness. About half of NE breast carcinomas recapitulate the histological spectrum typical of their counterparts in other organ systems, varying from "carcinoid-like" to small cell carcinoma, with most representing intermediate grade tumors...
June 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28325824/persistence-of-myopathy-in-cushing-s-syndrome-evaluation-of-the-german-cushing-s-registry
#17
Christina Maria Berr, Mareike R Stieg, Timo Deutschbein, Marcus Quinkler, Ralf Schmidmaier, Andrea Osswald, Nicole Reisch, Katrin Ritzel, Christina Dimopoulou, Julia Fazel, Stefanie Hahner, Gunter K Stalla, Felix Beuschlein, Martin Reincke
BACKGROUND: Cushing's syndrome (CS) is characterized by an excessive secretion of glucocorticoids that results in a characteristic clinical phenotype. One feature of clinical hypercortisolism is breakdown of protein metabolism translating into clinical consequences including glucocorticoid induced myopathy. While surgery is effective in control of cortisol excess, the effect of biochemical remission on muscular function is yet unclear. METHODS: In a cross-sectional study we analyzed 47 patients with CS during the florid phase (ActiveCS)...
March 21, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28314809/goodpasture-s-disease-with-late-presentation-of-renal-abnormality-and-anti-gbm-autoantibody
#18
Emily Ann Boardman, Sameira Sohail, Rajesh Yadavilli
Goodpasture's disease without circulating autoantibodies is a rare presentation of a rare diagnosis. We present the case of a man aged 17 years who had 3 hospital admissions over a 2-month period with haemoptysis and shortness of breath. Throughout his first 2 admissions, his renal function was normal and anti-glomerular basement membrane (GBM) antibodies were negative. CT pulmonary angiogram during his second admission revealed florid and diffuse alveolar infiltrates. However, high-resolution CT chest performed 4 weeks later showed complete resolution of these changes...
March 17, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28291070/florid-neovascularization-of-the-retina-in-a-diabetic-patient-undergoing-induction-and-consolidation-therapy-for-acute-promyelocytic-leukemia
#19
John R Rocke, J Ben Clark, Philip J Campbell, Emil Kurniawan
PURPOSE: To report on a 39-year-old gentleman with a background of Type 2 diabetes mellitus who was diagnosed with acute promyelocytic leukemia (APL), which was treated by all-trans retinoic acid (ATRA), and subsequently developed bilateral neovascularization of the disk (NVD). METHODS: Ophthalmic examination and investigation including fundus photography and fluorescein angiography. RESULTS: Three months after commencement of ATRA therapy, the patient was found to have florid bilateral NVD with adjacent preretinal and intraretinal hemorrhages...
March 13, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28274069/florid-osseous-dysplasia-report-of-two-cases-and-review-of-literature
#20
Gayathri Mahalingam, G V Murali Gopika Manoharan
Florid osseous dysplasia is a rare benign fibro-osseous multiquadrant dysplastic lesion confined to the alveolar process of jaws, generally asymptomatic and usually detected incidentally during radiologic examination and requires no treatment unless symptomatic or cosmetically concerning. In this article, we present two rare cases of florid osseous dysplasia in Indian women with their clinical, radiographic and histologic findings and a brief review of literature. The first case was asymptomatic and the lesion was detected during routine radiographic examination and required no treatment whereas, the second case presented with features of osteomyelitis...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
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