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https://www.readbyqxmd.com/read/28620498/diabetes-insipidus-and-hypopituitarism-in-hiv-an-unexpected-cause
#1
Carlos Tavares Bello, Francisco Sousa Santos, João Sequeira Duarte, Carlos Vasconcelos
Central diabetes insipidus (DI) is a rare clinical entity characterized by low circulating levels of antidiuretic hormone (ADH) presenting with polyuria and volume depletion. Pituitary surgery is the most common cause of central DI in adults. Pituitary and hypothalamic disease, particularly invasive neoplasms, rarely cause DI, being idiopathic cases responsible for the majority of non-surgical cases. HIV patients, especially those with poor virulogical control, are prone to the development of CNS neoplasms, particularly lymphomas...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28619436/tumefactive-demyelinating-lesions-a-comprehensive-review
#2
REVIEW
Hussein Algahtani, Bader Shirah, Ali Alassiri
Tumefactive multiple sclerosis or tumefactive demyelinating lesion (TDL) is one of the rare variants of multiple sclerosis (MS) posing a diagnostic challenge and a therapeutic enigma since it is difficult to distinguish from a true central nervous system (CNS) neoplasm or other CNS lesions on magnetic resonance imaging (MRI). The prevalence of TDL is estimated to be 1-3/1000 cases of MS with an annual incidence of 0.3/100,000. This could be an underestimate due to unavailability of a global MS registry and under-reporting of this condition...
May 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28612665/granular-cell-tumor-of-the-neurohypophysis-with-tfe-3-expression-a-rare-case-report
#3
Guang-Zhi Yang, Jing Li
Granular cell tumor (GCT) rarely involves the central nervous system, and fewer than 100 cases have been reported in English literatures. We herein report a case of a 36-year-old Chinese man with GCT of the neurohypophysis. Magnetic resonance imaging showed one mass located in the hypophysis with heterogeneous contrast enhancement. Pathological examination showed a neoplasm comprising densely packed polygonal cells of ample cytoplasm with abundant eosinophilic granules inside. The nuclei were small with inconspicuous nucleoli and yet without any mitoses...
June 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28612247/-18-f-fluorothymidine-pet-imaging-in-gliomas-an-update
#4
Alexandra Nikaki, George Angelidis, Roxani Efthimiadou, Ioannis Tsougos, Varvara Valotassiou, Konstantinos Fountas, Vasileios Prasopoulos, Panagiotis Georgoulias
Brain neoplasms constitute a group of tumors with discrete differentiation grades, and therefore, course of disease and prognosis. Magnetic resonance imaging (MRI) remains the gold standard method for the investigation of central nervous system tumors. However, MRI suffers certain limitations, especially if radiation therapy or chemotherapy has been previously applied. On the other hand, given the development of newer radiopharmaceuticals, positron emission tomography (PET) aims to a better investigation of brain tumors, assisting in the clinical management of the patients...
June 13, 2017: Annals of Nuclear Medicine
https://www.readbyqxmd.com/read/28609138/giant-cell-ependymoma-presentation-of-a-case-of-the-sacral-region-and-literature-review
#5
Hugo R Domínguez-Malagón, Diana B Sevilla-Lizcano, Leonardo S Lino-Silva
Ependymoma is a rare central nervous system neoplasm with an even rarer morphologic variant called giant-cell ependymoma (GCE). GCE has a characteristic discrepant, malignant-like morphology but indolent behavior. We present the case of a 21-year-old female with an extra-axial GCE located in the sacral region. To date, 16 cases of sacral GCE have been reported in the literature, with 4 cases in the sacral region; however, all those cases were intra-axial. We present the first case of an extra-axial sacral GCE...
June 13, 2017: Ultrastructural Pathology
https://www.readbyqxmd.com/read/28590047/cytopathologic-findings-of-cell-block-materials-from-the-vitreous-diagnostic-distinction-between-intraocular-lymphoma-and-non-lymphomatous-diseases
#6
Hiromi Kanno-Okada, Emi Takakuwa, Yoshiaki Tagawa, Satoru Kase, Kanako C Hatanaka, Yutaka Hatanaka, Kenichi Namba, Tomoko Mitsuhashi, Yoshihiro Matsuno
Intraocular lymphoma is a rare neoplasm that occurs only in the eyes and/or central nervous system. Diagnosis of intraocular lymphoma is difficult because its clinical manifestations mimic chronic uveitis. Pathological examination of the vitreous is one of the main diagnostic tools for intraocular lymphoma, but this is challenging due to the sparse cellularity and specimen degeneration. Here, we reviewed 33 cell block preparations from vitreous perfusion fluid in order to examine the significance of cytopathological findings for differential diagnosis using vitreous samples...
June 7, 2017: Pathology International
https://www.readbyqxmd.com/read/28571143/histopathological-study-of-central-nervous-system-lesions-emphasizing-association-of-neoplasms-with-abo-blood-groups
#7
B N Kumarguru, P Pallavi, Sunila, G V Manjunath, T S Vasan, B R Rajalakshmi
INTRODUCTION: The Central Nervous System (CNS) lesions show considerable geographic and racial variations with respect to the incidence and the pattern of distribution of lesions. The ABO blood status is a readily accessible factor in genetic constitution of the patients. It has been shown to be associated with many diseases. But the influence of blood group status on the pathogenesis of brain tumours is still unclear. AIM: To study various histopathological patterns of CNS lesions and to evaluate the association of CNS tumours with the distribution of ABO blood groups in documented cases...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28564668/updates-on-chimeric-antigen-receptor-mediated-glioblastoma-immunotherapy
#8
George Mao, Prakash Sampath, Sadhak Sengupta
Glioblastoma multiforme (GBM) is the most malignant of the primary central nervous system (CNS) neoplasms, accounting for nearly 80% of all primary brain tumors and is associated with high morbidity and mortality. Immunotherapy is proving to be a fertile ground for next-generation GBM therapy, with large translational research projects and clinical trials currently underway. One particularly promising area is the chimeric antigen receptors (CARs) in the context of lymphocyte adoptive cell therapy (ACT), which has achieved success in the treatment of hematological malignancies...
June 1, 2017: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/28553668/the-clinical-spectrum-of-erdheim-chester-disease-an-observational-cohort-study
#9
Juvianee I Estrada-Veras, Kevin J O'Brien, Louisa C Boyd, Rahul H Dave, Benjamin Durham, Liqiang Xi, Ashkan A Malayeri, Marcus Y Chen, Pamela J Gardner, Jhonell R Alvarado-Enriquez, Nikeith Shah, Omar Abdel-Wahab, Bernadette R Gochuico, Mark Raffeld, Elaine S Jaffe, William A Gahl
Erdheim-Chester Disease (ECD) is a rare, potentially fatal, multi-organ myeloid neoplasm occurring mainly in adults. The diagnosis is established by clinical, radiologic, and histologic findings; ECD tumors contain foamy macrophages that are CD68+, CD163+, CD1a-, and frequently S100-. The purpose of this report is to describe the clinical and molecular variability of ECD. Sixty consecutive ECD patients (45 males, 15 females) were prospectively evaluated at the NIH Clinical Center between 2011 and 2015. Comprehensive imaging and laboratory studies were performed, and tissues were examined for BRAF V600E and MAPK pathway mutations...
February 14, 2017: Blood Advances
https://www.readbyqxmd.com/read/28550041/central-nervous-system-involvement-in-acute-lymphoblastic-leukemia-is-mediated-by-vascular-endothelial-growth-factor
#10
Vera Münch, Luca Trentin, Julia Herzig, Salih Demir, Felix Seyfried, Johann M Kraus, Hans A Kestler, Rolf Köhler, Thomas F E Barth, Geertruy Te Kronnie, Klaus-Michael Debatin, Lüder H Meyer
In acute lymphoblastic leukemia (ALL), central nervous system (CNS) involvement is a major clinical concern. Despite non-detectable CNS leukemia in many cases, prophylactic CNS-directed conventional intrathecal chemotherapy is required for relapse free survival indicating subclinical CNS manifestation in most patients. However, CNS-directed therapy is associated with long-term sequelae including neurocognitive deficits and secondary neoplasms. Therefore, molecular mechanisms and pathways mediating leukemia cell entry into the CNS need to be understood in order to identify targets for prophylactic and therapeutic interventions and develop alternative CNS-directed treatment strategies...
May 26, 2017: Blood
https://www.readbyqxmd.com/read/28548244/primary-histiocytic-sarcoma-presenting-as-diffuse-leptomeningeal-disease-case-description-and-review-of-the-literature
#11
Magda Zanelli, Moira Ragazzi, Giovanni Marchetti, Alessandra Bisagni, Massimo Principi, Daniela Fanni, Elisabetta Froio, Silvia Serra, Eleonora Zanetti, Loredana De Marco, Felice Giangaspero, Stefano Ascani
Histiocytic sarcoma is a rare malignant neoplasm arising most commonly in lymph nodes, intestinal tract, skin and soft tissue. The incidence of primary CNS histiocytic sarcoma is even rarer with a total of just 27 cases reported in the literature so far. Herein we describe the first autopsy case of histiocytic sarcoma presenting as a diffuse leptomeningeal disease in absence of a CNS tumor-forming parenchymal lesion. The clinical, pathological and immunophenotypic features are described and an updated literature review on primary CNS histiocytic sarcoma is included...
May 26, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28541444/blood-brain-barrier-pericyte-importance-in-malignant-gliomas-what-we-can-learn-from-stroke-and-alzheimer-s-disease
#12
Sadhana Jackson, Ayman ElAli, Daniela Virgintino, Mark R Gilbert
The pericyte, a constitutive component of the central nervous system, is a poorly understood cell type that envelops the endothelial cell with the intended purpose of regulating vascular flow and endothelial cell permeability. Previous studies of pericyte function have been limited to a small number of disease processes such as ischemic stroke and Alzheimer's disease. Recently, publications have postulated a link between glioma stem cell differentiation and pericyte function. These studies suggest that there may be an important interaction of pericytes with tumor cells and other components of the tumor microenvironment in malignant primary glial neoplasms, most notably glioblastoma...
May 24, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28530852/long-term-risk-of-subsequent-malignant-neoplasms-after-treatment-of-childhood-cancer-in-the-dcog-later-study-cohort-role-of-chemotherapy
#13
Jop C Teepen, Flora E van Leeuwen, Wim J Tissing, Eline van Dulmen-den Broeder, Marry M van den Heuvel-Eibrink, Helena J van der Pal, Jacqueline J Loonen, Dorine Bresters, Birgitta Versluys, Sebastian J C M M Neggers, Monique W M Jaspers, Michael Hauptmann, Margriet van der Heiden-van der Loo, Otto Visser, Leontien C M Kremer, Cécile M Ronckers
Purpose Childhood cancer survivors (CCSs) are at increased risk for subsequent malignant neoplasms (SMNs). We evaluated the long-term risk of SMNs in a well-characterized cohort of 5-year CCSs, with a particular focus on individual chemotherapeutic agents and solid cancer risk. Methods The Dutch Childhood Cancer Oncology Group-Long-Term Effects After Childhood Cancer cohort includes 6,165 5-year CCSs diagnosed between 1963 and 2001 in the Netherlands. SMNs were identified by linkages with the Netherlands Cancer Registry, the Dutch Pathology Registry, and medical chart review...
May 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28529699/evolution-immunity-and-the-emergence-of-brain-superautoantigens
#14
Serge Nataf
While some autoimmune disorders remain extremely rare, others largely predominate the epidemiology of human autoimmunity. Notably, these include psoriasis, diabetes, vitiligo, thyroiditis, rheumatoid arthritis and multiple sclerosis. Thus, despite the quasi-infinite number of "self" antigens that could theoretically trigger autoimmune responses, only a limited set of antigens, referred here as superautoantigens, induce pathogenic adaptive responses. Several lines of evidence reviewed in this paper indicate that, irrespective of the targeted organ (e...
2017: F1000Research
https://www.readbyqxmd.com/read/28474160/-hereditary-tumor-syndromes-in-neuropathology
#15
REVIEW
C Mawrin
Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at a young age and multiple meningiomas) can be important indications for a previously undiagnosed hereditary tumor disease...
May 4, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28464318/examination-of-phox2b-in-adult-neuroendocrine-neoplasms-reveals-relatively-frequent-expression-in-pheochromocytomas-and-paragangliomas
#16
John P Lee, Yin P Hung, Thomas M O'Dorisio, James R Howe, Jason L Hornick, Andrew M Bellizzi
AIMS: Paired-like homeobox 2b (PHOX2B) is a transcription factor with expression outside of the central nervous system restricted to neurons and chromaffin cells of the autonomic nervous system. Germline mutations cause congenital central hypoventilation syndrome and predispose to neuroblastoma and Hirschsprung disease. Among pediatric small round cell tumors, PHOX2B is neuroblastoma-specific. Two studies of adult autonomic nervous system tumors (n=62) produced conflicting results (all tumors stained in one; expression was restricted to 40% of paragangliomas in the other)...
May 2, 2017: Histopathology
https://www.readbyqxmd.com/read/28462555/neoplastic-fever-all-who-shiver-are-not-infected
#17
Yogesh B Sharma, Aparna Vishal More
We report the case of previously healthy 14 years old male who presented high grade fever and headache. There was a history of convulsion at age of 7 years, so MRI Brain was done. It was suggestive of a central nervous system neoplasm. Our patient had only two days of fever which is an unusual presentation of a neoplasm. The paper should be of interest to the clinicians as neoplastic fever as cause of acute febrile illness is considered as a remote possibility.
March 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28454254/oculomotor-nerve-palsy-as-a-preceding-symptom-of-adult-sporadic-burkitt-lymphoma-a-case-report-and-review-of-the-literature
#18
Yun Liang, Luyin Ding, Xian Li, Weiqin Wang, Xiaohong Zhang
Adult sporadic Burkitt lymphoma (BL) is a rare aggressive neoplasm and represents ~1-5% of all lymphomas diagnosed in adults. The disease exhibits an aggressive clinical manifestation, which frequently involves the central nervous system (CNS) in the early stages, and is usually accompanied by abnormalities in cerebrospinal fluid (CSF) examinations and/or neuroradiography. The current study describes the rare case of a 29-year-old man who presented with oculomotor nerve palsy without palpated masses, B symptoms, peripheral blood anomaly and abnormalities of the nervous system...
March 2017: Oncology Letters
https://www.readbyqxmd.com/read/28453743/targeted-next-generation-sequencing-of-pediatric-neuro-oncology-patients-improves-diagnosis-identifies-pathogenic-germline-mutations-and-directs-targeted-therapy
#19
Cassie N Kline, Nancy M Joseph, James P Grenert, Jessica van Ziffle, Eric Talevich, Courtney Onodera, Mariam Aboian, Soonmee Cha, David R Raleigh, Steve Braunstein, Joseph Torkildson, David Samuel, Michelle Bloomer, Alejandra G de Alba Campomanes, Anuradha Banerjee, Nicholas Butowski, Corey Raffel, Tarik Tihan, Andrew W Bollen, Joanna J Phillips, W Michael Korn, Iwei Yeh, Boris C Bastian, Nalin Gupta, Sabine Mueller, Arie Perry, Theodore Nicolaides, David A Solomon
Background.: Molecular profiling is revolutionizing cancer diagnostics and leading to personalized therapeutic approaches. Herein we describe our clinical experience performing targeted sequencing for 31 pediatric neuro-oncology patients. Methods.: We sequenced 510 cancer-associated genes from tumor and peripheral blood to identify germline and somatic mutations, structural variants, and copy number changes. Results.: Genomic profiling was performed on 31 patients with tumors including 11 high-grade gliomas, 8 medulloblastomas, 6 low-grade gliomas, 1 embryonal tumor with multilayered rosettes, 1 pineoblastoma, 1 uveal ganglioneuroma, 1 choroid plexus carcinoma, 1 chordoma, and 1 high-grade neuroepithelial tumor...
May 1, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28440987/-tumors-of-the-central-nervous-system
#20
Marco Antonio Alegría-Loyola, Javier Andrés Galnares-Olalde, Moisés Mercado
Central nervous system (CNS) tumors constitute a heterogeneous group of neoplasms that share a considerable morbidity and mortality rate. Recent advances in the underlying oncogenic mechanisms of these tumors have led to new classification systems, which, in turn, allow for a better diagnostic approach and therapeutic planning. Most of these neoplasms occur sporadically and several risk factors have been found to be associated with their development, such as exposure to ionizing radiation or electromagnetic fields and the concomitant presence of conditions like diabetes, hypertension and Parkinson's disease...
May 2017: Revista Médica del Instituto Mexicano del Seguro Social
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