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Histiocytosis

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https://www.readbyqxmd.com/read/28225310/central-diabetes-insipidus-clinical-characteristics-and-long-term-course-in-a-large-cohort-of-adults
#1
Hiba Masri-Iraqi, Dania Hirsch, Dana Herzberg, Avner Lifshitz, Gloria Tsvetov, Carlos Benbassat, Ilan Shimon
Purpose Central diabetes insipidus (CDI) is a rare heterogeneous condition with various underlying causes. This study sought to increase the still-limited data on the clinical characteristics and long-term course in adults diagnosed with CDI. Methods Data on demographics, presentation, imaging findings, affected pituitary axes, treatment, and complications were collected retrospectively from the files of 70 adult patients with CDI followed at a referral endocrine clinic. Results 40 women and 30 men were included...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28222655/a-cytologic-diagnosis-of-braf-v600e-erdheim-chester-disease-on-pericardial-fluid
#2
P Chasseur, M Kyriakopoulou, B Vokaer, I Beukinga, R Casado Arroyo, E Cogan, B Couturier
We report the case of a 74-year-old woman admitted to the emergency unit for resting dyspnea. Clinical presentation, cardiac MRI and echocardiography were consistent with cardiac tamponade requiring emergency pericardiocentesis. Cytologic examination of the pericardial fluid revealed the presence of CD68(pos) CD1a(neg) S100(neg) foamy histiocytes (Fig. 1). Additional investigations complied with the diagnosis of Erdheim-Chester histiocytosis. Treatment with αIFN was initiated but the patient developed severe neutropenia that contraindicated further administration...
February 22, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28220299/molecular-analysis-of-braf-v600e-mutation-in-multiple-nodules-of-pulmonary-langerhans-cell-histiocytosis
#3
Arno Dimmler, Helene Geddert, Martin Werner, Gerhard Faller
Pulmonary Langerhans cell histiocytosis (PLCH) is a rare, smoking-related histiocytic disorder with variable clinical symptoms. Like in other non-pulmonary Langerhans cell proliferations, PLCH has recently been shown to harbour BRAF V600E mutations in a significant subset of cases, thus challenging the concept of PLCH being a reactive disorder. Here, we analysed 38 formalin-fixed and paraffin-embedded PLCH nodules of nine patients for BRAF mutation using two different molecular methods. Using pyrosequencing and allele-specific quantitative PCR (AS-PCR), BRAF V600E mutations were found in 16/38 (42%) and 31/37 (84%) nodules, respectively...
February 20, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28219109/the-use-of-braf-v600e-mutation-specific-immunohistochemistry-in-pediatric-langerhans-cell-histiocytosis
#4
Leomar Y Ballester, Miguel D Cantu, Karen P H Lim, Stephen F Sarabia, Lizmery Suarez Ferguson, C Renee Webb, Carl E Allen, Kenneth L McClain, Carrie A Mohila, Jyotinder N Punia, Angshumoy Roy, Dolores H López-Terrada, M John Hicks, Kevin E Fisher
BRAF p.V600E mutations are detected in greater than 50% of pediatric Langerhans cell histiocytosis (LCH) lesions. However, the use of mutation-specific BRAF V600E immunohistochemistry (IHC) as a surrogate for molecular testing in pediatric LCH is unknown. We tested the mutation-specific BRAF V600E monoclonal antibody (clone VE1) in formalin-fixed, paraffin-embedded LCH samples from 26 pediatric patients (14 males and 12 females, ages 7 mo-17 y) using allele-specific real-time polymerase chain reaction (PCR) with a limit of detection of 0...
February 20, 2017: Hematological Oncology
https://www.readbyqxmd.com/read/28217022/a-unique-case-of-increased-18f-fdg-metabolic-activity-in-the-soft-tissues-of-the-bilateral-upper-thighs-due-to-immunizations-in-a-pediatric-patient
#5
Terrel L Galloway, Mickaila J Johnston, Michael D Starsiak, Eugene D Silverman
A case of a 7-month-old white female who was referred for 18F-fluorodeoxyglucose (FDG) Positron emission tomography/computed tomography (PET/CT) initial evaluation of a lytic skull lesion with presumed diagnosis of Langerhans cell histiocytosis is described. Incidentally, she was found to have hypermetabolic nodules in the soft tissues of her anterior thighs.
January 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28214412/histiocytoses-emerging-neoplasia-behind-inflammation
#6
REVIEW
Julien Haroche, Fleur Cohen-Aubart, Barret J Rollins, Jean Donadieu, Frédéric Charlotte, Ahmed Idbaih, Augusto Vaglio, Omar Abdel-Wahab, Jean-François Emile, Zahir Amoura
Histiocytoses are disorders characterised by inflammation and the accumulation of cells derived from the monocyte and macrophage lineages, which results in tissue damage. Although they are often considered rare disorders with protean clinical manifestations, considerable advances in the understanding of their genetics have led to increased clinical recognition of these conditions, and fuelled further insights into their pathogenesis. In this Review, we describe insights into the cells of origin, molecular pathology, clinical features, and treatment strategies for some of the most common histiocytic disorders, including Langerhans cell histiocytosis, Erdheim-Chester disease, and Rosai-Dorfman disease...
February 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28210574/rosai-dorfman-disease-affecting-the-maxilla
#7
Thaís Gimenez Miniello, Juliane Piragine Araujo, Norberto Nobuo Sugaya, Fernando Melhem Elias, Oslei Paes de Almeida, Fabio Abreu Alves
Rosai-Dorfman disease (RDD), formerly called sinus histiocytosis with massive lymphadenopathy, is a non-neoplastic proliferative histiocytic disorder with behavior ranging from highly aggressive to spontaneous remission. Although the lymph nodes are more commonly involved, any organ can be affected. This study aimed to describe the features and the follow-up of a case of extranodal RDD. Our patient was a 39-year-old woman who was referred with an 11-month history of pain in the right maxilla. On clinical examination, some upper right teeth presented full mobility with normal appearance of the surrounding gingiva...
October 2016: Autopsy & case reports
https://www.readbyqxmd.com/read/28207278/adult-langerhans-cell-histiocytosis-masquerading-as-hidradenitis-suppurativa
#8
Jason Chertoff, Julian Chung, Ali Ataya
N/A - Images.
February 16, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28196316/common-skin-conditions-in-children-neonatal-skin-lesions
#9
Brian Z Rayala, Dean S Morrell
Skin findings during the initial month of life are ubiquitous. One study estimated that more than 95% of newborns have cutaneous findings, which often are distressing to parents but frequently are benign and self-limited. Among them are milia, cutis marmorata, congenital dermal melanocytosis, and the benign neonatal pustular eruptions (eg, benign cephalic pustulosis, erythema toxicum neonatorum, transient neonatal pustular melanosis). Clinicians need to recognize these benign skin conditions and differentiate them from more serious conditions, such as infectious pustular eruptions from bacterial, viral, and fungal causes, and inflammatory conditions, such as Langerhans cell histiocytosis...
February 2017: FP Essentials
https://www.readbyqxmd.com/read/28194436/real-time-genomic-profiling-of-histiocytoses-identifies-early-kinase-domain-braf-alterations-while-improving-treatment-outcomes
#10
Lynn H Lee, Anjelika Gasilina, Jayeeta Roychoudhury, Jason Clark, Francis X McCormack, Joseph Pressey, Michael S Grimley, Robert Lorsbach, Siraj Ali, Mark Bailey, Philip Stephens, Jeffrey S Ross, Vincent A Miller, Nicolas N Nassar, Ashish R Kumar
Many patients with histiocytic disorders such as Langerhans cell histiocytosis (LCH) or Erdheim-Chester disease (ECD) have treatment-refractory disease or suffer recurrences. Recent findings of gene mutations in histiocytoses have generated options for targeted therapies. We sought to determine the utility of prospective sequencing of select genes to further characterize mutations and identify targeted therapies for patients with histiocytoses. Biopsies of 72 patients with a variety of histiocytoses underwent comprehensive genomic profiling with targeted DNA and RNA sequencing...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28186860/traumatic-rib-injury-patterns-imaging-pitfalls-complications-and-treatment
#11
Brett S Talbot, Christopher P Gange, Apeksha Chaturvedi, Nina Klionsky, Susan K Hobbs, Abhishek Chaturvedi
The ribs are frequently affected by blunt or penetrating injury to the thorax. In the emergency department setting, it is vital for the interpreting radiologist to not only identify the presence of rib injuries but also alert the clinician about organ-specific injury, specific traumatic patterns, and acute rib trauma complications that require emergent attention. Rib injuries can be separated into specific morphologic fracture patterns that include stress, buckle, nondisplaced, displaced, segmental, and pathologic fractures...
February 10, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28183273/phanerochaete-sordida-as-a-cause-of-pulmonary-nodule-in-an-immunocompromised-patient-a-case-report
#12
Naoki Watanabe, Kiyofumi Ohkusu, Masaya Okuda, Osamu Imataki, Tomoya Ishii, Kiyoshi Negayama, Akira Tadokoro, Nobuyuki Kita, Takehiro Takagi, Nobuhiro Kanaji, Norimitsu Kadowaki, Shuji Bandoh
BACKGROUND: Phanerochaete sordida is a species of wood rotting fungus, which can degrade lignin, cellulose and hemicellulose contained in wood and other hard-to-biodegrade organic substances. However, to date, there have been no other reports demonstrating that P. sordida can infect humans. CASE PRESENTATION: A 66-year-old Japanese man presented for a mass increasing in size on his left thigh. He had been suffering from rheumatoid arthritis for 18 years and chronic obstructive pulmonary disease for 20 years, for which he was being treated with 5 mg/day prednisolone and 8 mg/week methotrexate...
February 10, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28182116/effective-braf-inhibitor-vemurafenib-therapy-in-a-2-year-old-patient-with-sequentially-diagnosed-langerhans-cell-histiocytosis-and-erdheim-chester-disease
#13
Zsófia Váradi, Rita Bánusz, Judit Csomor, Krisztián Kállay, Edit Varga, Gabriella Kertész, Monika Csóka
Erdheim-Chester disease (ECD) is a rare histiocytic disorder, characterized by the xanthomatous infiltration of tissues by CD68-positive and CD1a-/CD100-negative foamy histiocytes. In childhood, ECD is exceptionally rare, and only a dozen cases have been published so far. The cooccurence of Langerhans cell histiocytosis (LCH) and ECD is even rarer. Here, we report a 2-year-old boy, the youngest patient in the literature so far, who was diagnosed with concomitant BRAF mutation-positive LCH and ECD. In his case, conventional LCH treatment proved to be ineffective, but he is the youngest patient who was successfully treated with the BRAF inhibitor vemurafenib...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/28181270/orbital-cellulitis-as-the-initial-presentation-of-langerhans-cell-histiocytosis-in-an-adult-patient
#14
Avash Das, Arjun Gupta, Harris Vk Naina
No abstract text is available yet for this article.
February 9, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28173721/rosai-dorfman-disease-of-the-subdural-spine-with-a-long-segment-lesion-a-case-report-and-literature-review
#15
Ji Tu, Wen-Tian Li, Cao Yang
Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare benign disorder usually characterized by massive painless cervical lymphadenopathy and systemic manifestations. Extranodal involvement, especially spinal involvement, is extremely rare. We report a 41-year-old man who presented with only intermittent dorsodynia. His condition was diagnosed as non-specific inflammatory disease on the basis of preoperative puncture biopsy results. We performed total surgical resection. Histopathological findings showed distinctive emperipolesis and immunohistochemistry results were positive for cluster of differentiation CD68 and S100 and negative for CD1a...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28168342/spinal-rosai-dorfman-disease-case-report-and-literature-review
#16
Haocheng Xu, Fan Zhang, Feizhou Lu, Jianyuan Jiang
OBJECTIVE: Sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman disease (RDD) is a rare benign disease of dubious etiology that arises predominantly in lymph nodes with generalized fever and malaise. Isolated intraspinal involvement has its unique characteristics. The purpose of this study is to present the largest series of cases in the spinal Rosai-Dorfman disease literature to increase familiarity with its clinicopathologic features, diagnosis, and treatment of RDD from spine...
February 6, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28166093/cutaneous-involvement-in-adult-multisystemic-langerhans-cell-histiocytosis-successfully-treated-with-pulsed-dye-laser
#17
Ximena Calderón-Castrat, Monica Roncero-Riesco, María T Alonso-San Pablo, Ángel Santos-Briz, Emilia Fernández-López
No abstract text is available yet for this article.
February 3, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28149747/an-unusual-thoracic-localizations-of-erdheim-chester-disease-a-case-report
#18
C Massaccesi, S Colella, F Fioretti, V D'Emilio, G Panella, G Primomo, F Barbisan, R Pela, V Poletti
Erdheim- Chester disease is a rare non- Langerhans cell histiocytosis that usually involves the bones, heart, central nervous system, retroperitoneum, eyes, kidneys, skin and adrenals. Lungs are affected in up to one-half cases; at CT scan various patterns are described: interstitial disease, consolidations, micronodules and microcysts, with or without pleural involvement. We presented a case of a 59 year-old man with unusual intrathoracic manifestation of Erdheim- Chester disease. Singularities of our report are the lonely thoracic involvement at the onset of the disease and a histiocytic lesion in the posterior mediastinum...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28149092/isolated-sphenoid-sinus-lesions-experience-with-a-few-rare-pathologies
#19
Nishanth Sadashiva, B N Nandeesh, Dhaval Shukla, Dhananjaya Bhat, Sampath Somanna, Bhagavatula Indira Devi
INTRODUCTION: The sphenoid sinus is often neglected because of its difficult access. The deep position of the sphenoid sinus hinders early diagnosis of pathologies in that location. Delayed diagnosis can cause serious complications due to proximity to many important structures. OBJECTIVES: The aim of this study is to demonstrate different pathologies which can affect the sphenoid sinus and elucidate the findings. METHODS: Cases of isolated sphenoid sinus lesions encountered in the neurosurgical setting which had rare pathologies are discussed...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28149024/extremely-high-ferritinemia-associated-with-haemophagocytic-lympho-histiocytosis-hlh
#20
Neelima Verma, Jyoti Chakraverty, Pankaj Baweja, Alka Girotra, Leena Chatterjee, Manish Chugh
Hyperferritinemia (>10,000 ng/ml) is an important hallmark used as an indicator of infection triggered macrophage activation syndrome leading to hemophagocytic lympho histiocytosis (HLH). Measurement of serum ferritin can be used in diagnosis as well as disease monitoring indicator and prognosis related to HLH, cAPS, sepsis, neoplasm and inflammatory conditions. It is a major contributor to manage critically ill patients as predicting and monitoring indicator. It can be used as acute phase response in conditions of MAS, AOSD, cAPS etc...
March 2017: Indian Journal of Clinical Biochemistry: IJCB
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