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Article ; Online: Neurotoxicity and management of primary and secondary central nervous system lymphoma after adoptive immunotherapy with CD19-directed chimeric antigen receptor T-cells.

Karschnia, Philipp / Arrillaga-Romany, Isabel C / Eichler, April / Forst, Deborah A / Gerstner, Elizabeth / Jordan, Justin T / Ly, Ina / Plotkin, Scott R / Wang, Nancy / Martinez-Lage, Maria / Winter, Sebastian F / Tonn, Joerg-Christian / Rejeski, Kai / von Baumgarten, Louisa / Cahill, Daniel P / Nahed, Brian V / Shankar, Ganesh M / Abramson, Jeremy S / Barnes, Jeffrey A /

El-Jawahri, Areej / Hochberg, Ephraim P / Johnson, P Connor / Soumerai, Jacob D / Takvorian, Ronald W / Chen, Yi-Bin / Frigault, Matthew J / Dietrich, Jorg

Neuro-oncology

2024 Volume 25, Issue 12, Page(s) 2239–2249

Abstract: Background: Chimeric antigen receptor (CAR) T-cells targeting CD19 have been established as a leading engineered T-cell therapy for B-cell lymphomas; however, data for patients with central nervous system (CNS) involvement are limited.: Methods: We ... ...

Abstract	Background: Chimeric antigen receptor (CAR) T-cells targeting CD19 have been established as a leading engineered T-cell therapy for B-cell lymphomas; however, data for patients with central nervous system (CNS) involvement are limited. Methods: We retrospectively report on CNS-specific toxicities, management, and CNS response of 45 consecutive CAR T-cell transfusions for patients with active CNS lymphoma at the Massachusetts General Hospital over a 5-year period. Results: Our cohort includes 17 patients with primary CNS lymphoma (PCNSL; 1 patient with 2 CAR T-cell transfusions) and 27 patients with secondary CNS lymphoma (SCNSL). Mild ICANS (grade 1-2) was observed after 19/45 transfusions (42.2%) and severe immune effector cell-associated neurotoxicity syndrome (ICANS) (grade 3-4) after 7/45 transfusions (15.6%). A larger increase in C-reactive protein (CRP) levels and higher rates of ICANS were detected in SCNSL. Early fever and baseline C-reactive protein levels were associated with ICANS occurrence. CNS response was seen in 31 cases (68.9%), including a complete response of CNS disease in 18 cases (40.0%) which lasted for a median of 11.4 ± 4.5 months. Dexamethasone dose at time of lymphodepletion (but not at or after CAR T-cell transfusion) was associated with an increased risk for CNS progression (hazard ratios [HR] per mg/d: 1.16, P = .031). If bridging therapy was warranted, the use of ibrutinib translated into favorable CNS-progression-free survival (5 vs. 1 month, HR 0.28, CI 0.1-0.7; P = .010). Conclusions: CAR T-cells exhibit promising antitumor effects and a favorable safety profile in CNS lymphoma. Further evaluation of the role of bridging regimens and corticosteroids is warranted.
MeSH term(s)	Humans ; Immunotherapy, Adoptive/adverse effects ; Receptors, Chimeric Antigen ; C-Reactive Protein ; Retrospective Studies ; Lymphoma/therapy ; Central Nervous System Neoplasms/therapy ; Neurotoxicity Syndromes/etiology ; Neurotoxicity Syndromes/therapy ; Central Nervous System ; T-Lymphocytes
Chemical Substances	Receptors, Chimeric Antigen ; C-Reactive Protein (9007-41-4)
Language	English
Publishing date	2024-03-13
Publishing country	England
Document type	Journal Article
ZDB-ID	2028601-6
ISSN	1523-5866 ; 1522-8517
ISSN (online)	1523-5866
ISSN	1522-8517
DOI	10.1093/neuonc/noad118
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Article ; Online: Utility of administrative claims data for the study of brain metastases: a validation study.

Eichler, April F / Lamont, Elizabeth B

Journal of neuro-oncology

2009 Volume 95, Issue 3, Page(s) 427–431

Abstract: In this study, we sought to determine the accuracy with which the International Classification of Diseases, 9th Edition, Clinical Modification (ICD-9-CM) diagnosis code for "secondary neoplasm of brain and spinal cord" in health insurance claims measures ...

Abstract	In this study, we sought to determine the accuracy with which the International Classification of Diseases, 9th Edition, Clinical Modification (ICD-9-CM) diagnosis code for "secondary neoplasm of brain and spinal cord" in health insurance claims measures clinically evident central nervous system (CNS) metastases in patients with non-small cell lung cancer (NSCLC). For 241 consecutive patients with newly diagnosed NSCLC, we compared ICD-9-CM "secondary neoplasm" codes indicating tumor spread to the CNS from institutional billing records to gold-standard chart review to determine: (1) sensitivity, specificity and positive predictive value (PPV) of the site-specific secondary neoplasm code and (2) the accuracy in time of its appearance within billing records compared with the gold standard date of CNS relapse. The occurrence of at least one ICD-9-CM code for brain metastasis (Algorithm 1) had a sensitivity of 100% (95% CI: 100-100%) and PPV of 91% (95% CI: 87-94%). By requiring >or= 2 codes (Algorithm 2) or >or= 3 codes (Algorithm 3) for the diagnosis of brain metastasis in claims, specificity and PPV improved, while sensitivity did not drop substantially. The claims-based date of diagnosis was also accurate, with 92% of dates falling within 30 days of the gold standard. ICD-9-CM codes in institutional billing claims reliably documented NSCLC metastases to the CNS. These results suggest that Medicare claims data may be used to evaluate clinical and epidemiological issues related to brain metastases in elderly cancer patients.
MeSH term(s)	Aged ; Algorithms ; Brain Neoplasms/diagnosis ; Brain Neoplasms/epidemiology ; Brain Neoplasms/secondary ; Carcinoma, Non-Small-Cell Lung/diagnosis ; Carcinoma, Non-Small-Cell Lung/epidemiology ; Carcinoma, Non-Small-Cell Lung/secondary ; Cohort Studies ; Female ; Humans ; Insurance Claim Reporting/standards ; Insurance Claim Reporting/statistics & numerical data ; International Classification of Diseases/standards ; International Classification of Diseases/statistics & numerical data ; Lung Neoplasms/diagnosis ; Lung Neoplasms/epidemiology ; Lung Neoplasms/pathology ; Male ; Middle Aged ; Neoplasm Recurrence, Local/epidemiology ; Predictive Value of Tests ; Reproducibility of Results ; Sensitivity and Specificity
Language	English
Publishing date	2009-06-27
Publishing country	United States
Document type	Journal Article ; Validation Study
ZDB-ID	604875-4
ISSN	1573-7373 ; 0167-594X
ISSN (online)	1573-7373
ISSN	0167-594X
DOI	10.1007/s11060-009-9943-z
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Zs.A 1825: Show issues

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Article ; Online: Pemetrexed in Recurrent or Progressive Central Nervous System Lymphoma: A Phase I Multicenter Clinical Trial.

Dietrich, Jorg / Versmee, Laura / Drappatz, Jan / Eichler, April F / Nayak, Lakshmi / Norden, Andrew / Wong, Eric / Pisapia, Michelle R / Jones, SooAe S / Gordon, Amanda B / Chabner, Bruce A / Hochberg, Fred / Batchelor, Tracy T

The oncologist

2020 Volume 25, Issue 9, Page(s) 747–e1273

Abstract: Lessons learned: The findings from this study using monotherapy with pemetrexed in a pretreated patient population are, overall, encouraging. Unlike high-dose methotrexate, which requires several days of inpatient hospitalization, pemetrexed is ... ...

Abstract	Lessons learned: The findings from this study using monotherapy with pemetrexed in a pretreated patient population are, overall, encouraging. Unlike high-dose methotrexate, which requires several days of inpatient hospitalization, pemetrexed is relatively easy to administer in the outpatient setting and remains a viable treatment option in this patient population. The maximum tolerated dose of pemetrexed administered (900 mg/m Background: There is currently no standard salvage treatment for patients with relapsed/refractory central nervous system (CNS) lymphoma (CNSL). We report the results of a phase I study of pemetrexed, an antifolate drug with broader activity than methotrexate (MTX). We provide the safety, tolerability, and maximum tolerated dose (MTD) of pemetrexed in patients with recurrent CNSL. Methods: Through October 2015, 17 patients with relapsed/refractory CNSL received pemetrexed every 2 weeks with the first cohort receiving 600 mg/m Results: Seventeen patients were evaluable with a median age of 63.7 years. Main adverse events included fatigue (82.4%), anemia (82.4%), and neutropenia (70.6%). The MTD was established at 900 mg/m Conclusion: Pemetrexed administered at 900 mg/m
MeSH term(s)	Antineoplastic Combined Chemotherapy Protocols/adverse effects ; Central Nervous System ; Humans ; Lymphoma/drug therapy ; Lymphoma, Non-Hodgkin/drug therapy ; Maximum Tolerated Dose ; Middle Aged ; Neoplasm Recurrence, Local/drug therapy ; Pemetrexed/therapeutic use
Chemical Substances	Pemetrexed (04Q9AIZ7NO)
Language	English
Publishing date	2020-07-01
Publishing country	United States
Document type	Clinical Trial, Phase I ; Journal Article ; Multicenter Study
ZDB-ID	1409038-7
ISSN	1549-490X ; 1083-7159
ISSN (online)	1549-490X
ISSN	1083-7159
DOI	10.1634/theoncologist.2020-0489
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Zs.A 4845: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article: Brain metastases.

Eichler, April F / Plotkin, Scott R

Current treatment options in neurology

2008 Volume 10, Issue 4, Page(s) 308–314

Abstract: Metastatic brain tumors are the most common intracranial neoplasm in adults, affecting up to 10% of adults with cancer in the United States. The risk of developing brain metastases varies by primary cancer type, with lung cancer, breast cancer, and ... ...

Abstract	Metastatic brain tumors are the most common intracranial neoplasm in adults, affecting up to 10% of adults with cancer in the United States. The risk of developing brain metastases varies by primary cancer type, with lung cancer, breast cancer, and melanoma accounting for the majority. The incidence of brain metastases appears to be rising because of several factors, including an aging population, better treatment of systemic disease, and improved cranial imaging techniques. Therapeutic approaches to brain metastases include surgery, whole brain radiotherapy (WBRT), stereotactic radiosurgery (SRS), and chemotherapy. Many patients are treated with a combination of these, and treatment decisions must take into account clinical prognostic factors in order to maximize survival and neurologic function while avoiding unnecessary treatments. WBRT remains the most widely used treatment for patients with brain metastases. Although many radiation sensitizers have been studied over the years, none has emerged for widespread use. For patients with a limited number of brain metastases and favorable prognostic factors, local therapies such as surgery and SRS improve control rates and may extend survival compared with WBRT alone. SRS can also be used effectively at recurrence in patients with a limited number of lesions. Chemotherapy has traditionally played only a salvage role for brain metastases when all other treatments have failed, but research is likely to increasingly focus on systemic options such as targeted agents and angiogenesis inhibitors, as well as on novel delivery techniques and multidrug resistance pathways specific to brain in order to expand treatment options for this growing population of patients.
Language	English
Publishing date	2008-06-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	2057342-X
ISSN	1534-3138 ; 1092-8480
ISSN (online)	1534-3138
ISSN	1092-8480
DOI	10.1007/s11940-008-0033-x
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Zs.A 5535: Show issues

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Article ; Online: Leukodystrophies: classification, diagnosis, and treatment.

Costello, Daniel J / Eichler, April F / Eichler, Florian S

The neurologist

2009 Volume 15, Issue 6, Page(s) 319–328

Abstract: Background: The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and ... ...

Abstract	Background: The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate. Recent advances in the diagnosis and treatment of certain forms of leukodystrophy should prompt increased awareness of these diseases in clinical practice. Review summary: The clinical features, pathophysiology, and therapeutic approach to these diseases are described. Particular emphasis is placed on genetic and pathophysiologic mechanisms, imaging patterns, screening of other family members and, where available, treatment options and resources. Conclusions: With more widespread use of neuroimaging, both pediatric and adult neurologists will increasingly be confronted with white matter disorders. Neurologists should have an approach to the recognition, diagnosis, and management of white matter diseases in general and the leukodystrophies in specific.
MeSH term(s)	Age of Onset ; Diagnostic Imaging/methods ; Hereditary Central Nervous System Demyelinating Diseases/classification ; Hereditary Central Nervous System Demyelinating Diseases/diagnosis ; Hereditary Central Nervous System Demyelinating Diseases/therapy ; Humans ; Nerve Fibers, Myelinated/pathology
Language	English
Publishing date	2009-11
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Review
ZDB-ID	1361380-7
ISSN	2331-2637 ; 1074-7931
ISSN (online)	2331-2637
ISSN	1074-7931
DOI	10.1097/NRL.0b013e3181b287c8
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Zs.A 4641: Show issues

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Article: Brain metastases.

Lu-Emerson, Christine / Eichler, April F

Continuum (Minneapolis, Minn.)

2012 Volume 18, Issue 2, Page(s) 295–311

Abstract: Purpose of review: Brain metastases are the most common neurologic complication related to systemic cancer. With continued improvements in systemic treatment, the incidence is expected to increase. This article reviews the clinical presentation, ... ...

Abstract	Purpose of review: Brain metastases are the most common neurologic complication related to systemic cancer. With continued improvements in systemic treatment, the incidence is expected to increase. This article reviews the clinical presentation, pathophysiology, prognostic factors, and treatment of metastatic brain tumors. Recent findings: Brain metastases from systemic cancer are up to 10 times more common than primary malignant brain tumors and are a significant burden in the management of patients with advanced cancer. Common presenting symptoms include headache, focal weakness or numbness, mental status change, and seizure. Management and treatment of metastatic brain tumors is complex and dependent on several factors, including age, performance status, number of metastases at presentation, and status of systemic disease. At the time of diagnosis, most patients have more than one brain metastasis, and treatment has traditionally consisted of whole-brain radiation therapy (WBRT). For those patients with single brain metastases, aggressive local treatment with surgery or stereotactic radiosurgery (SRS) combined with WBRT has been shown to improve survival and neurologic outcomes compared with WBRT alone. In patients with a limited number of brain metastases, SRS alone is being increasingly explored as a treatment option that spares the upfront toxicity of WBRT. Currently, the role of chemotherapy is limited to experimental settings and salvage after radiation therapy. Summary: Patients with brain metastases have complex needs and require a multidisciplinary approach in order to optimize intracranial disease control while maximizing neurologic function and quality of life. Patients with multiple metastases, uncontrolled systemic disease, and poor functional status are typically treated with WBRT alone, whereas surgery and SRS may be used for additional local control in a subset of patients with fewer tumors and good functional status. The incorporation of neuropsychological outcomes, neurologic function, and quality of life as end points in future studies will offer further guidance for providing comprehensive care to patients with metastatic brain tumors.
MeSH term(s)	Brain Neoplasms/diagnosis ; Brain Neoplasms/secondary ; Brain Neoplasms/therapy ; Humans ; Neoplasm Metastasis/diagnosis ; Neoplasm Metastasis/physiopathology ; Neoplasm Metastasis/therapy ; Prognosis
Language	English
Publishing date	2012-04
Publishing country	United States
Document type	Journal Article ; Review
ISSN	1080-2371
ISSN	1080-2371
DOI	10.1212/01.CON.0000413659.12304.a6
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Article ; Online: Role of Basal Forebrain Neurons in Adrenomyeloneuropathy in Mice and Humans.

Gong, Yi / Laheji, Fiza / Berenson, Anna / Li, Yedda / Moser, Ann / Qian, April / Frosch, Matthew / Sadjadi, Reza / Hahn, Ryan / Maguire, Casey A / Eichler, Florian

Annals of neurology

2023 Volume 95, Issue 3, Page(s) 442–458

Abstract: Objective: X-linked adrenoleukodystrophy is caused by mutations in the peroxisomal half-transporter ABCD1. The most common manifestation is adrenomyeloneuropathy, a hereditary spastic paraplegia of adulthood. The present study set out to understand the ... ...

Abstract	Objective: X-linked adrenoleukodystrophy is caused by mutations in the peroxisomal half-transporter ABCD1. The most common manifestation is adrenomyeloneuropathy, a hereditary spastic paraplegia of adulthood. The present study set out to understand the role of neuronal ABCD1 in mice and humans with adrenomyeloneuropathy. Methods: Neuronal expression of ABCD1 during development was assessed in mice and humans. ABCD1-deficient mice and human brain tissues were examined for corresponding pathology. Next, we silenced ABCD1 in cholinergic Sh-sy5y neurons to investigate its impact on neuronal function. Finally, we tested adeno-associated virus vector-mediated ABCD1 delivery to the brain in mice with adrenomyeloneuropathy. Results: ABCD1 is highly expressed in neurons located in the periaqueductal gray matter, basal forebrain and hypothalamus. In ABCD1-deficient mice (Abcd1-/y), these structures showed mild accumulations of α-synuclein. Similarly, healthy human controls had high expression of ABCD1 in deep gray nuclei, whereas X-ALD patients showed increased levels of phosphorylated tau, gliosis, and complement activation in those same regions, albeit not to the degree seen in neurodegenerative tauopathies. Silencing ABCD1 in Sh-sy5y neurons impaired expression of functional proteins and decreased acetylcholine levels, similar to observations in plasma of Abcd1-/y mice. Notably, hind limb clasping in Abcd1-/y mice was corrected through transduction of ABCD1 in basal forebrain neurons following intracerebroventricular gene delivery. Interpretation: Our study suggests that the basal forebrain-cortical cholinergic pathway may contribute to dysfunction in adrenomyeloneuropathy. Rescuing peroxisomal transport activity in basal forebrain neurons and supporting glial cells might represent a viable therapeutic strategy. ANN NEUROL 2024;95:442-458.
MeSH term(s)	Humans ; Animals ; Mice ; Adult ; Adrenoleukodystrophy/genetics ; Adrenoleukodystrophy/metabolism ; ATP-Binding Cassette Transporters/genetics ; Basal Forebrain/metabolism ; Neuroblastoma ; Neurons/metabolism ; Cholinergic Agents ; ATP Binding Cassette Transporter, Subfamily D, Member 1/genetics
Chemical Substances	ATP-Binding Cassette Transporters ; Cholinergic Agents ; Abcd1 protein, mouse ; ATP Binding Cassette Transporter, Subfamily D, Member 1
Language	English
Publishing date	2023-12-26
Publishing country	United States
Document type	Journal Article
ZDB-ID	80362-5
ISSN	1531-8249 ; 0364-5134
ISSN (online)	1531-8249
ISSN	0364-5134
DOI	10.1002/ana.26849
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Zs.A 1370: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 478: Show issues

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Article: Multidisciplinary management of brain metastases.

Eichler, April F / Loeffler, Jay S

The oncologist

2007 Volume 12, Issue 7, Page(s) 884–898

Abstract: Metastatic brain tumors are the most common intracranial neoplasms in adults. The incidence of brain metastases appears to be rising as a result of superior imaging modalities, earlier detection, and more effective treatment of systemic disease. ... ...

Abstract	Metastatic brain tumors are the most common intracranial neoplasms in adults. The incidence of brain metastases appears to be rising as a result of superior imaging modalities, earlier detection, and more effective treatment of systemic disease. Therapeutic approaches to brain metastases include surgery, whole brain radiotherapy (WBRT), stereotactic radiosurgery (SRS), and chemotherapy. Treatment decisions must take into account clinical prognostic factors in order to maximize survival and neurologic function whilst avoiding unnecessary treatments. The goal of this article is to review important prognostic factors that may guide treatment selection, discuss the roles of surgery, radiation, and chemotherapy in the treatment of patients with brain metastases, and present new directions in brain metastasis therapy under active investigation. In the future, patients will benefit from a multidisciplinary approach focused on the integration of surgical, radiation, and chemotherapeutic options with the goal of prolonging survival, preserving neurologic and neurocognitive function, and maximizing quality of life.
MeSH term(s)	Brain Neoplasms/secondary ; Brain Neoplasms/therapy ; Breast Neoplasms/pathology ; Combined Modality Therapy/methods ; Humans ; Lung Neoplasms/pathology ; Melanoma/pathology ; Neoplasm Metastasis/therapy ; Prognosis ; Randomized Controlled Trials as Topic ; Survival Analysis
Language	English
Publishing date	2007-07
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1409038-7
ISSN	1083-7159
ISSN	1083-7159
DOI	10.1634/theoncologist.12-7-884
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Zs.A 4845: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 494: Show issues

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Article ; Online: Primary central nervous system lymphoma: presentation, diagnosis and staging.

Eichler, April F / Batchelor, Tracy T

Neurosurgical focus

2006 Volume 21, Issue 5, Page(s) E15

Abstract: Primary central nervous system lymphoma (PCNSL) is a rare form of non-Hodgkin lymphoma that affects the brain, spinal cord, leptomeninges, and eyes. The clinical presentation and neuroimaging appearance of PCNSL differ in immunocompetent patients and in ... ...

Abstract	Primary central nervous system lymphoma (PCNSL) is a rare form of non-Hodgkin lymphoma that affects the brain, spinal cord, leptomeninges, and eyes. The clinical presentation and neuroimaging appearance of PCNSL differ in immunocompetent patients and in those with acquired immunodeficiency syndrome (AIDS). A magnetic resonance (MR) image of the brain in immunocompetent patients with PCNSL typically demonstrates one or more homogeneously enhancing lesions located in the periventricular white matter, characteristically spanning the corpus callosum. In patients with AIDS, multiple ring-enhancing lesions are more common. After neuroimages raising the suspicion of PCNSL are obtained, a definitive diagnosis should be established in both immunocompetent and AIDS patients by performing pathological analysis of cerebrospinal fluid (CSF), vitreous fluid, or a biopsy specimen. Brain biopsy sampling remains the gold standard for PCNSL diagnosis in all patients, although the possibility of establishing routine, minimally invasive diagnostic procedures in which Epstein-Barr virus polymerase chain reaction (PCR) analysis of the CSF and nuclear imaging are used is currently under investigation in the population of patients with AIDS. At the time of diagnosis, the patient should undergo further evaluation, which should include a physical examination, ophthalmic evaluation with a slit-lamp examination, serum lactate dehydrogenase levels, human immunodeficiency virus testing, computed tomography scans of the chest/abdomen/pelvis, bone marrow biopsy sampling, contrast-enhanced brain MR imaging, and lumbar puncture (LP). Testicular ultrasonography studies should be considered in men. In patients who cannot undergo LP or in those with evidence of spinal cord dysfunction, contrast-enhanced MR imaging of the entire spine should be considered.
MeSH term(s)	Biopsy ; Central Nervous System Neoplasms/pathology ; Humans ; Lymphoma, Non-Hodgkin/pathology ; Magnetic Resonance Imaging ; Neoplasm Staging
Language	English
Publishing date	2006-11-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2026589-X
ISSN	1092-0684 ; 1092-0684
ISSN (online)	1092-0684
ISSN	1092-0684
DOI	10.3171/foc.2006.21.5.16
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Article ; Online: Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.

Gong, Yi / Laheji, Fiza / Berenson, Anna / Qian, April / Park, Sang-O / Kok, Rene / Selig, Martin / Hahn, Ryan / Sadjadi, Reza / Kemp, Stephan / Eichler, Florian

Cells

2022 Volume 11, Issue 11

Abstract: Mutations in the peroxisomal half-transporter ABCD1 cause X-linked adrenoleukodystrophy, resulting in elevated very long-chain fatty acids (VLCFA), progressive neurodegeneration and an associated pain syndrome that is poorly understood. In the nervous ... ...

Abstract	Mutations in the peroxisomal half-transporter ABCD1 cause X-linked adrenoleukodystrophy, resulting in elevated very long-chain fatty acids (VLCFA), progressive neurodegeneration and an associated pain syndrome that is poorly understood. In the nervous system of mice, we found ABCD1 expression to be highest in dorsal root ganglia (DRG), with satellite glial cells (SGCs) displaying higher expression than neurons. We subsequently examined sensory behavior and DRG pathophysiology in mice deficient in ABCD1 compared to wild-type mice. Beginning at 8 months of age,
MeSH term(s)	ATP Binding Cassette Transporter, Subfamily D, Member 1/metabolism ; ATP-Binding Cassette Transporters/metabolism ; Adrenoleukodystrophy/genetics ; Adrenoleukodystrophy/metabolism ; Animals ; Fatty Acids/metabolism ; Hyperalgesia/genetics ; Hyperalgesia/metabolism ; Ion Channels/genetics ; Ion Channels/metabolism ; Mice ; Pain/metabolism ; Peroxisomes/metabolism
Chemical Substances	ATP Binding Cassette Transporter, Subfamily D, Member 1 ; ATP-Binding Cassette Transporters ; Abcd1 protein, mouse ; Fatty Acids ; Ion Channels ; Piezo2 protein, mouse
Language	English
Publishing date	2022-06-04
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, N.I.H., Extramural
ZDB-ID	2661518-6
ISSN	2073-4409 ; 2073-4409
ISSN (online)	2073-4409
ISSN	2073-4409
DOI	10.3390/cells11111842
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