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Erdheim chester

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https://www.readbyqxmd.com/read/27900869/-evaluation-of-five-years-of-treatment-of-erdheim-chester-disease-with-anakinra-case-report-and-overview-of-literature
#1
Zdeněk Adam, Hana Petrášová, Zdeněk Řehák, Renata Koukalová, Marta Krejčí, Luděk Pour, Eva Vetešníková, Aleš Čermák, Sabina Ševčíková, Petr Szturz, Zdeněk Král, Jiří Mayer
: Erdheim-Chester disease is a histiocytic neoplasm of diseases from the group of non-Langerhans-cell histiocytoses, formed by infiltrates of foamy histiocytes. These pathological histiocytes produce pro-inflammatory cytokines. Therefore Erdheim-Chester disease is called inflammatory histiocytary neoplasm. The disease is accompanied by clinical symptoms of systemic inflammatory response, i.e. B symptoms. Imaging examinations detect typical osteosclerotic changes affecting diaphyses and metaphyses of the lower long bones and fibrotic changes which affect the aorta wall and the vessels leading from it...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27898473/histopathological-and-clinical-findings-in-cutaneous-manifestation-of-erdheim-chester-disease-and-langerhans-cell-histiocytosis-overlap-syndrome-associated-with-the-brafv600e-mutation
#2
Julia Liersch, J Andrew Carlson, Jörg Schaller
The overlap of Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) is more common than it was generally accepted. Both diseases seem to be linked by a mutation in oncogenic BRAFV600E, probably an early event which occurs in bone marrow progenitor cells. In this article are described the clinical and histological findings in 2 cases of ECD-LCH overlap syndrome bearing the BRAFV600E mutation in both ECD and LCH lesions in bone and skin. In one case, lesions of ECD and LCH were situated directly site-to-site in the same bone section leading to the assumption of a common myeloid precursor cell for these diseases...
November 23, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/27889325/-langerhans-cell-histiocytosis-and-erdheim-chester-disease-a-continuity
#3
S Parreau, J Haroche, I Pommepuy, J F Emile, J C Bourras, F Archambeaud
INTRODUCTION: Erdheim-Chester disease and langerhans cell histiocytosis are two rare diseases separate on clinical, radiological and histological aspects. However, several cases involving both entities have been described. OBSERVATION: A 70-year-old man had a central diabetes insipidus, xanthelasmas, retroperitoneal fibrosis and osteosclerosis of the legs suggestive of Erdheim-Chester disease. Bone biopsy showed langerhans cell histiocytosis CD1a positive with the presence of BRAF V600E mutation...
November 23, 2016: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/27863426/quantification-of-tumor-derived-cell-free-dna-cfdna-by-digital-pcr-digpcr-in-cerebrospinal-fluid-of-patients-with-brafv600-mutated-malignancies
#4
Parisa Momtaz, Elena Pentsova, Omar Abdel-Wahab, Eli Diamond, David Hyman, Taha Merghoub, Daoqi You, Billel Gasmi, Agnes Viale, Paul B Chapman
Tumor-derived cell free DNA (cfDNA) can be detected in plasma. We hypothesized that mutated BRAF V600 cfDNA could be quantified in the cerebrospinal fluid (CSF) of patients with central nervous system (CNS) metastases. We collected CSF from patients with BRAF V600E or K-mutated melanoma (N=8) or BRAF V600E mutated Erdheim-Chester Disease (ECD) (N=3) with suspected central nervous system (CNS) involvement on the basis of neurological symptoms (10/11), MRI imaging (8/11), or both. Tumor-derived cfDNA was quantified by digital PCR in the CSF of 6/11 patients (range from 0...
November 16, 2016: Oncotarget
https://www.readbyqxmd.com/read/27861332/systemic-vasculitis-associated-with-vemurafenib-treatment-case-report-and-literature-review
#5
Adrien Mirouse, Léa Savey, Fanny Domont, Cloé Comarmond, Stéphane Barete, Emmanuelle Plaisier, Philippe Rouvier, Patrice Cacoub, David Saadoun
RATIONALE: Vemurafenib, an inhibitor of mutated B-rapidly accelerated fibrosarcoma, is frequently used in the treatment of melanoma and Erdheim-Chester disease (ECD) patients. Inflammatory adverse effects have been increasingly reported after vemurafenib treatment. PATIENT CONCERNS AND DIAGNOSE: We report 6 cases of vemurafenib-associated vasculitis, of whom a personal case of a 75-year-old man with history of ECD who developed purpura and rapidly progressive pauci-immune glomerulonephritis during treatment with vemurafenib...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27833932/targeted-treatment-of-brainstem-neurohistiocytosis-guided-by-urinary-cell-free-dna
#6
David Hunt, Paul Milne, Peter Fernandes, Venetia Bigley, Matthew Collin
OBJECTIVE: To identify a treatment-responsive BRAF(V600E) mutation in brainstem neurohistiocytosis, where no lesional tissue was readily obtainable, using a cell-free DNA approach. METHODS: Cell-free DNA was extracted from urine and allele-specific PCR for the BRAF(V600E) mutation was performed. Response to conventional treatment (corticosteroids and interferon) and targeted treatment with a BRAF inhibitor was assessed by clinical evaluation, gadolinium-enhanced MRI brain scan, and serial testing of urinary cell-free DNA for mutant alleles...
January 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/27793652/erdheim-chester-disease-presenting-as-a-solid-renal-mass
#7
Matthew B Clements, Jacques Farhi, Noah S Schenkman
Erdheim-Chester disease (ECD) is a rare, systemic histiocytic disorder, usually presenting due to bone manifestations. The most commonly seen urologic manifestation is retroperitoneal fibrosis, leading to ureteral obstruction. We describe a patient with a solid right renal mass, initially concerning for renal cell carcinoma, in addition to diffuse retroperitoneal fibrosis and a chronically obstructed left kidney. The renal mass and retroperitoneal fibrosis are thought to be caused by ECD based on imaging findings and biopsy results...
October 25, 2016: Urology
https://www.readbyqxmd.com/read/27759649/erdheim-chester-disease-ecd-case-report-clinical-and-basic-investigations-and-review-of-literature
#8
Mohammad Adawi, Bishara Bisharat, Abdalla Bowirrat
BACKGROUND: Erdheim-Chester disease (ECD) is an uncommon aggressive, multisystem form of non-Langerhans' cell histocytosis, which was firstly reported by Jakob Erdheim and William chester in 1930. The disease pathological features encompass an aberrant multiplication, overproduction and accumulation of white blood cells called histiocytes within multiple tissues and organs. Herein, we present a case of ECD owing to the rarity of this disease (roughly 550 cases have been described in the literature to date)...
October 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27752407/a-case-of-incidentally-diagnosed-erdheim-chester-disease
#9
Atman A Dave, Susan E Gutschow, Christopher M Walker
Erdheim-Chester disease (ECD) is a rare multisystemic non-Langerhans cell histiocytosis that may be clonal and inflammatory in origin. The hallmark of the disease is infiltration of various organ systems by CD68+/CD1a- histiocytes containing foamy lipid-laden inclusions. The manifestations and course of the disease are variable and depend on the organ systems that are affected. Patients may be asymptomatic or may develop life-threatening complications, including myocardial infarction. The most common clinical manifestation is lower extremity bone pain...
September 13, 2016: Curēus
https://www.readbyqxmd.com/read/27739223/an-unusual-presentation-of-erdheim-chester-disease
#10
Sang Gyu Park, Dong Hoon Baek, Kyu Min Lee, Seo Young Oh, Do Youn Park, Sangjeong Ahn, Nari Shin, Geun Am Song
No abstract text is available yet for this article.
October 13, 2016: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/27702933/erdheim-chester-disease-25-year-history-with-early-cns-involvement
#11
C M Rice, C A Hall, P McCoubrie, S A Renowden, N Cohen, N J Scolding
We report a case of Erdheim-Chester disease (ECD) with a 25-year history following initial presentation with diabetes insipidus and brainstem involvement. The exceptionally long history is particularly notable, given that ECD is a life-threatening disorder and there is a recognised association between central nervous system involvement and poor outcome. The case is a timely reminder of the presenting features of the condition, given the emergence of potential new treatment options.
October 4, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27663675/cardiac-involvement-in-erdheim-chester-disease-an-mri-study
#12
Davide Gianfreda, Alessandro A Palumbo, Enrica Rossi, Lorenzo Buttarelli, Gaia Manari, Chiara Martini, Massimo De Filippo, Augusto Vaglio
No abstract text is available yet for this article.
September 23, 2016: Blood
https://www.readbyqxmd.com/read/27648170/unusual-presentation-of-erdheim-chester-disease-in-a-child-with-acute-lymphoblastic-leukemia
#13
Archana George Vallonthaiel, Asit Ranjan Mridha, Shivanand Gamanagatti, Manisha Jana, Mehar Chand Sharma, Shah Alam Khan, Sameer Bakhshi
Erdheim-Chester disease (ECD) is an uncommon, non-familial, non-Langerhans cell histiocytosis, which involves skeletal system and soft tissue usually in middle aged and elderly patients. The characteristic radiologic features include bilateral, symmetric cortical osteosclerosis of the diaphyseal and metaphyseal parts of the long bones, or bilateral symmetrically abnormal intense (99m)Technetium labelling of the metaphyseal-diaphyseal region of the long bones, and computed tomography scan findings of "coated aorta" or "hairy kidneys"...
August 28, 2016: World Journal of Radiology
https://www.readbyqxmd.com/read/27628326/diagnostic-approach-to-advanced-fibrotic-interstitial-lung-disease-bringing-together-clinical-radiologic-and-histologic-clues
#14
Brandon T Larsen, Maxwell L Smith, Brett M Elicker, Jessica M Fernandez, Guillermo A Arbo-Oze de Morvil, Carlos A C Pereira, Kevin O Leslie
Context .- Idiopathic pulmonary fibrosis (IPF) is a distinctive clinicopathologic entity and the most common form of progressive diffuse lung scarring in older adults. Idiopathic pulmonary fibrosis manifests histopathologically as the usual interstitial pneumonia pattern. The usual interstitial pneumonia pattern is distinguished by geographically and temporally heterogeneous fibrosis that is peripherally accentuated, often with honeycombing and traction bronchiectasis. Idiopathic pulmonary fibrosis is not the only disease that leads to end-stage lung fibrosis, however, and several other entities may also cause advanced fibrosis...
September 15, 2016: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/27622037/plasma-chromogranin-a-as-a-marker-of-cardiovascular-involvement-in-erdheim-chester-disease
#15
Elisabetta Ferrero, Angelo Corti, Julien Haroche, Daniela Belloni, Barbara Colombo, Alvise Berti, Giulio Cavalli, Corrado Campochiaro, Antonello Villa, Fleur Cohen-Aubart, Zahir Amoura, Claudio Doglioni, Lorenzo Dagna, Marina Ferrarini
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis (LCH) characterized by tissue infiltration with CD68(+) foamy histiocytes. TNF-related chronic inflammation and mutations in the MAP kinase signaling pathway in histiocytes are recognized as the two major pathogenic events. Among pleomorphic clinical manifestations, cardiovascular involvement is frequent and prognostically relevant. Evaluation of ECD clinical course and response to treatment is, however, still challenging. Taking advantage of the two largest cohorts of ECD patients worldwide, we investigated the relevance and the potential of circulating Chromogranin A (CgA), a pro-hormone involved in cardiovascular homeostasis and inflammation, as a biomarker of response to therapy in ECD...
July 2016: Oncoimmunology
https://www.readbyqxmd.com/read/27617936/generalized-eruptive-histiocytosis-associated-with-a-novel-fusion-in-lmna-ntrk1
#16
Sarah S Pinney, Richard R Jahan-Tigh, Susan Chon
Non-Langerhans cell histiocytosis (NLCH) is a histiocyte disorder comprised of dermal dendritic histiocytes with a characteristic staining pattern. Erdheim-Chester disease (ECD) is a subset of NLCH in which patients experience bone pain with corresponding changes on imaging. In addition, these patients show other evidence of systemic involvement, which can also be identified with imaging. This disease can occasionally present with cutaneous findings. We present a case of generalized eruptive histiocytosis (GEH), misdiagnosed as ECD, found to have an NTRK1 gene rearrangement...
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27607166/a-unique-case-of-erdheim-chester-disease-with-cervical-and-lumbosacral-nerve-involvement-fdg-pet-ct-finding
#17
Na Niu, Xinxin Cao, Ruixue Cui
Cervical and lumbosacral nerve roots and plexus involvement in Erdheim-Chester disease (ECD) is rare. A 50-year-old man with progressive edema in bilateral lower extremities, numbness, weakness, and muscle atrophy of upper limb for 2 years had been misdiagnosed of neuritis or cervical spondylosis until he presented bone pain. In addition to bilateral symmetric involvement in long bones, bilateral hypermetabolism in cervical and lumbosacral nerve roots was found by FDG PET/CT scan. ECD was diagnosed by bone biopsy...
November 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/27606325/erdheim-chester-disease-a-rare-presentation-of-a-rare-disease
#18
Melissa Matzumura, Javier Arias-Stella, James E Novak
Erdheim-Chester disease (ECD) is a rare, xanthogranulomatous, non-Langerhans cell histiocytosis with frequent systemic involvement. Although the diagnosis is based on characteristic histological and radiological findings, its identification can be challenging because of its heterogeneous presentation. Osteosclerosis of long bones, often associated with bone pain, is the most common initial manifestation, followed by extraskeletal manifestations in approximately 50% of cases. There is no standard treatment for ECD, although recommendations have been made on the basis of small studies...
July 2016: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/27603510/cardiothoracic-manifestations-of-primary-histiocytoses
#19
Daniel Vargas, J Caleb Richards, Daniel Ocazionez, Arlene Sirajuddin, Lorna Browne, Carlos S Restrepo
The objectives of this article were: (1) to review common and rare manifestations of systemic and pulmonary Langerhans cell histiocytosis, Rosai-Dorfman disease, Erdheim-Chester disease and juvenile xanthogranuloma; (2) to provide the reader with important pathologic, epidemiologic and clinical features of these diseases. The histiocytoses are a diverse group of diseases which typically manifest with multiorgan involvement. Understanding the pathologic, epidemiologic and clinical features of these entities can help the radiologist suggest an accurate diagnosis of histiocytosis when typical imaging features are encountered...
December 2016: British Journal of Radiology
https://www.readbyqxmd.com/read/27603396/long-term-outcome-of-basilar-stenosis-in-erdheim-chester-disease-a-case-report
#20
Stéphane Mathis, Gaëlle Godenèche, Julien Haroche, Serge Milin, Adrien Julian, Aline Berthomet, Clément Baron, Paola Palazzo, Jean-Philippe Neau
BACKGROUND: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis. This inflammatory myeloid neoplasm is frequently complicated by neurological symptoms, but stroke is an exceptional manifestation of this disease. METHODS: We report the case of a 59-year-old woman who presented a vertebrobasilar stroke secondary to infiltration and severe stenosis of the basilar artery, improved after interferon-alpha therapy. We performed a review of the relevant literature and reported the few other cases described...
September 2016: Medicine (Baltimore)
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