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https://www.readbyqxmd.com/read/29352662/distinct-progression-patterns-of-brain-disease-in-infantile-and-juvenile-gangliosidoses-volumetric-quantitative-mri-study
#1
Igor Nestrasil, Alia Ahmed, Josephine M Utz, Kyle Rudser, Chester B Whitley, Jeanine R Jarnes-Utz
BACKGROUND: GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease) are unrelenting heritable neurodegenerative conditions of lysosomal ganglioside accumulation. Although progressive brain atrophy is characteristic, longitudinal quantification of specific brain structures has not been systematically studied. OBJECTIVES: The goal of this longitudinal study has been to quantify and track brain MRI volume changes, including specific structure volume changes, at different times in disease progression of childhood gangliosidoses, and to explore quantitative brain MRI volumetry (qMRI) as a non-invasive marker of disease progression for future treatment trials...
December 20, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29352201/cross-species-transcriptional-analysis-reveals-conserved-and-host-specific-neoplastic-processes-in-mammalian-glioma
#2
Nina P Connolly, Amol C Shetty, Jesse A Stokum, Ina Hoeschele, Marni B Siegel, C Ryan Miller, Anthony J Kim, Cheng-Ying Ho, Eduardo Davila, J Marc Simard, Scott E Devine, John H Rossmeisl, Eric C Holland, Jeffrey A Winkles, Graeme F Woodworth
Glioma is a unique neoplastic disease that develops exclusively in the central nervous system (CNS) and rarely metastasizes to other tissues. This feature strongly implicates the tumor-host CNS microenvironment in gliomagenesis and tumor progression. We investigated the differences and similarities in glioma biology as conveyed by transcriptomic patterns across four mammalian hosts: rats, mice, dogs, and humans. Given the inherent intra-tumoral molecular heterogeneity of human glioma, we focused this study on tumors with upregulation of the platelet-derived growth factor signaling axis, a common and early alteration in human gliomagenesis...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29350055/therapeutic-strategies-and-nano-drug-delivery-applications-in-management-of-ageing-alzheimer-s-disease
#3
Govindarajan Karthivashan, Palanivel Ganesan, Shin-Young Park, Joon-Soo Kim, Dong-Kug Choi
In recent years, the incidental rate of neurodegenerative disorders has increased proportionately with the aging population. Alzheimer's disease (AD) is one of the most commonly reported neurodegenerative disorders, and it is estimated to increase by roughly 30% among the aged population. In spite of screening numerous drug candidates against various molecular targets of AD, only a few candidates - such as acetylcholinesterase inhibitors are currently utilized as an effective clinical therapy. However, targeted drug delivery of these drugs to the central nervous system (CNS) exhibits several limitations including meager solubility, low bioavailability, and reduced efficiency due to the impediments of the blood-brain barrier (BBB)...
November 2018: Drug Delivery
https://www.readbyqxmd.com/read/29348988/anal-squamous-cell-carcinoma-in-a-patient-with-myasthenia-gravis-is-immunosuppression-the-main-underlying-etiology
#4
Muhammad Masab, Muhammad W Saif
Patients who are immunocompromised by diseases such as human immunodeficiency virus (HIV) infection are more prone to develop some malignancies such as Kaposi's sarcoma and central nervous system (CNS) lymphomas. Historically, anal squamous cell carcinoma (SCC) was also included on the list as an acquired immunodeficiency syndrome (AIDs)-defining cancer.  Similarly, compromised immune disorders including severe immunosuppression, haematologic malignancies, and solid organ transplantation have been identified as important risk factors for the development of anal SCC...
November 15, 2017: Curēus
https://www.readbyqxmd.com/read/29348832/clinical-and-histological-features-of-primary-testicular-diffuse-large-b-cell-lymphoma-a-single-center-experience-in-china
#5
De Zhou, Changqian Bao, Xiujin Ye, Lixia Zhu, Jingjing Zhu, Li Li, Mingyu Zhu, Xiudi Yang, Yanlong Zheng, Xianbo Huang, Mixue Xie, Wanzhuo Xie
Primary testicular lymphoma (PTL) is a rare and aggressive form of extranodal lymphoma. Approximately 80-98% of PTLs are diffuse large B-cell lymphoma (PT-DLBCL). The prognosis of DLBCL patients has improved with the addition of rituximab to systemic chemotherapy, but outcomes of PT-DLBCL remain poor. This may be explained by the high rate of relapse in the central nervous system (CNS) and contralateral testis. We analyzed 1,132 newly diagnosed DLBCL patients (37 with PT-DLBCL) who were treated at our hospital between January 2009 and December 2014...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29348602/the-ten-year-evolutionary-trajectory-of-a-highly-recurrent-paediatric-high-grade-neuroepithelial-tumour-with-mn1-bend2-fusion
#6
Anna Burford, Alan Mackay, Sergey Popov, Maria Vinci, Diana Carvalho, Matthew Clarke, Elisa Izquierdo, Aimee Avery, Thomas S Jacques, Wendy J Ingram, Andrew S Moore, Kieran Frawley, Timothy E Hassall, Thomas Robertson, Chris Jones
Astroblastomas are rare brain tumours which predominate in children and young adults, and have a controversial claim as a distinct entity, with no established WHO grade. Reports suggest a better outcome than high grade gliomas, though they frequently recur. Recently, they have been described to overlap with a newly-discovered group of tumours described as'high grade neuroepithelial tumour with MN1 alteration' (CNS HGNET-MN1), defined by global methylation patterns and strongly associated with gene fusions targeting MN1...
January 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29347976/intracisternal-tuberculoma-a-refractory-type-of-tuberculoma-indicating-surgical-intervention
#7
Fanfan Chen, Lei Chen, Yongfu Cao, Yongjun Yi, Jingwen Zhuang, Wuhua Le, Wei Xie, Lanbo Tu, Peng Li, Yimin Fang, Ling Li, Yuqing Kou, Kaikai Fu, Hua He, Hongbin Ju
BACKGROUND: Central nervous system (CNS) tuberculoma is a rare disease with severe neurological deficits. This retrospective research is to review the data of patients diagnosed as CNS tuberculoma. Surgeries were performed in all patients. The clinical features especially the neurological image and the anatomical characters of the tuberculomas were concerned. METHODS: Totally 11 patients diagnosed as CNS tuberculoma were admitted in Guangzhou First People's Hospital (7cases) and Changzheng Hospital (4 cases) during 2006-2015...
January 18, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29346778/diverse-brain-myeloid-expression-profiles-reveal-distinct-microglial-activation-states-and-aspects-of-alzheimer-s-disease-not-evident-in-mouse-models
#8
Brad A Friedman, Karpagam Srinivasan, Gai Ayalon, William J Meilandt, Han Lin, Melanie A Huntley, Yi Cao, Seung-Hye Lee, Patrick C G Haddick, Hai Ngu, Zora Modrusan, Jessica L Larson, Joshua S Kaminker, Marcel P van der Brug, David V Hansen
Microglia, the CNS-resident immune cells, play important roles in disease, but the spectrum of their possible activation states is not well understood. We derived co-regulated gene modules from transcriptional profiles of CNS myeloid cells of diverse mouse models, including new tauopathy model datasets. Using these modules to interpret single-cell data from an Alzheimer's disease (AD) model, we identified microglial subsets-distinct from previously reported "disease-associated microglia"-expressing interferon-related or proliferation modules...
January 16, 2018: Cell Reports
https://www.readbyqxmd.com/read/29345507/ovarian-tissue-cryopreservation-in-young-females-through-the-oncofertility-consortium-s-national-physicians-cooperative
#9
Austin G Armstrong, Bruce F Kimler, Brigid M Smith, Teresa K Woodruff, Mary Ellen Pavone, Francesca E Duncan
AIM: To characterize the clinical indications of females (<15 years old) undergoing ovarian tissue cryopreservation (OTC) through the Oncofertility Consortium's National Physicians Cooperative (OC-NPC). PATIENTS & METHODS: The clinical indications of 114 females who underwent OTC were classified, and their incidence was compared with childhood cancer databases. RESULTS: Leukemias/myeloproliferative diseases/myelodysplastic diseases and hemoglobinopathies were the most prevalent oncologic and nononcologic indications for OTC, respectively...
January 18, 2018: Future Oncology
https://www.readbyqxmd.com/read/29345149/medical-management-of-brain-metastases-and-leptomeningeal-disease-in-patients-with-breast-carcinoma
#10
Kelsey M Bowman, Priya Kumthekar
Breast cancer is the most common malignancy among women and accounts for the second highest number of cancer-related deaths. With patients surviving longer due to advances in systemic control, the incidence of CNS involvement is increasing; however, the management of CNS metastases has not undergone parallel advancements. The blood-brain barrier limits the efficacy of most systemic chemotherapies, and the utilization of surgery and radiation beyond first-line therapy is limited. We will explore the recent developments in the medical management of breast cancer brain metastasis...
January 18, 2018: Future Oncology
https://www.readbyqxmd.com/read/29345029/high-prevalence-and-functional-effects-of-serum-antineuronal-antibodies-in-patients-with-gastrointestinal-disorders
#11
A Lütt, K Michel, D Krüger, M S Volz, M Nassir, E Schulz, L Poralla, P Tangermann, C Bojarski, M Höltje, B Teegen, W Stöcker, M Schemann, B Siegmund, H Prüss
BACKGROUND: Antineuronal antibodies can be associated with both gastrointestinal (GI) and brain disorders. For example, antibodies against the potassium channel subunit dipeptidyl-peptidase-like protein-6 (DPPX) bind to neurons in the central nervous system (CNS) and myenteric plexus and cause encephalitis, commonly preceded by severe unspecific GI symptoms. We therefore investigated the prevalence of antineuronal antibodies indicative of treatable autoimmune CNS etiologies in GI patients...
January 18, 2018: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
https://www.readbyqxmd.com/read/29344866/immuno-guided-laser-capture-microdissection-of-glial-cells-for-mrna-analysis
#12
Arnaud B Nicot, Justine Rambeau, Flora Guillot, Alexandra Garcia, David A Laplaud
Laser-capture microdissection (LCM) allows for retrieval of specific cell populations in situ. By combining immunofluorescent labeling with LCM, mRNAs can be probed by qRT-PCR for determining in situ gene expression during health and disease. This approach permits obtaining and analyzing histologically enriched cell populations in a tissue that can be hardly obtained from other methods such as white matter astrocytes from rodents or any individual cell population from archival human or rodent brain tissues...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29343258/mass-spectrometric-profiling-of-cerebrospinal-fluid-reveals-metabolite-biomarkers-for-cns-involvement-in-varicella-zoster-virus-reactivation
#13
Maike Kuhn, Kurt-Wolfram Sühs, Manas K Akmatov, Frank Klawonn, Junxi Wang, Thomas Skripuletz, Volkhard Kaever, Martin Stangel, Frank Pessler
BACKGROUND: Varicella zoster virus (VZV) reactivation spans the spectrum from uncomplicated segmental herpes zoster to life-threatening disseminated CNS infection. Moreover, in the absence of a small animal model for this human pathogen, studies of pathogenesis at the organismal level depend on analysis of human biosamples. Changes in cerebrospinal fluid (CSF) metabolites may reflect critical aspects of host responses and end-organ damage in neuroinfection and neuroinflammation. We therefore applied a targeted metabolomics screen of CSF to three clinically distinct forms of VZV reactivation and infectious and non-infectious disease controls in order to identify biomarkers for CNS involvement in VZV reactivation...
January 17, 2018: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29342508/features-treatment-and-outcomes-of-macrophage-activation-syndrome-in-childhood-onset-systemic-lupus-erythematosus
#14
R Ezequiel Borgia, Maya Gerstein, Deborah M Levy, Earl D Silverman, Linda T Hiraki
OBJECTIVE: To describe the features and treatment of macrophage activation syndrome (MAS) in a childhood-onset systemic lupus erythematosus (cSLE) single centre cohort, and compare the cSLE manifestations and outcomes between those with and without MAS. METHODS: We included all cSLE patients followed at SickKids Hospital from 2002-12, and identified those also diagnosed with MAS. Demographic, clinical and laboratory features of MAS and SLE, medication use, hospital and PICU admissions as well as damage indices and mortality were extracted from the Lupus database...
January 17, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29342421/the-relation-between-plasma-%C3%AE-synuclein-level-and-clinical-symptoms-or-signs-of-parkinson-s-disease
#15
Michalina Malec-Litwinowicz, Andrzej Plewka, Danuta Plewka, Edyta Bogunia, Michał Morek, Andrzej Szczudlik, Michał Szubiga, Monika Rudzińska-Bar
INTRODUCTION: Parkinson disease (PD) is the common neurodegenerative disease. α-Synuclein (ASN), main aggregating protein in neural cells of CNS in PD, was found in peripheral fluids. Testing ASN in plasma is potential test for diagnose PD, but previous studies are controversial. The aim of this study was to investigate if plasma ASN level may be a valuable biomarker, is the level of plasma ASN concentration different in various motor subtypes of diseases, is there a relation between the level of plasma ASN and the severity of motor symptoms...
November 21, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/29342287/to-the-brain-and-back-migratory-paths-of-dendritic-cells-in-multiple-sclerosis
#16
Maxime De Laere, Zwi N Berneman, Nathalie Cools
Migration of dendritic cells (DC) to the central nervous system (CNS) is a critical event in the pathogenesis of multiple sclerosis (MS). While up until now, research has mainly focused on the transmigration of DC through the blood-brain barrier, experimental evidence points out that also the choroid plexus and meningeal vessels represent important gateways to the CNS, especially in early disease stages. On the other hand, DC can exit the CNS to maintain immunological tolerance to patterns expressed in the CNS, a process that is perturbed in MS...
January 12, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29341898/induction-of-alpha-synuclein-pathology-in-the-enteric-nervous-system-of-the-rat-and-non-human-primate-results-in-gastrointestinal-dysmotility-and-transient-cns-pathology
#17
Fredric P Manfredsson, Kelvin C Luk, Matthew J Benskey, Aysegul Guezer, Joanna Garcia, Nathan C Kuhn, Ivette M Sandoval, Joseph R Patterson, Alana O'Mara, Reid Yonkers, Jeffrey H Kordower
Alpha-Synuclein (α-syn) is by far the most highly vetted pathogenic and therapeutic target in Parkinson's disease. Aggregated α-syn is present in sporadic Parkinson's disease, both in the central nervous system (CNS) and peripheral nervous system (PNS). The enteric division of the PNS is of particular interest because 1) gastric dysfunction is a key clinical manifestation of Parkinson's disease, and 2) Lewy pathology in myenteric and submucosal neurons of the enteric nervous system (ENS) has been referred to as stage zero in the Braak pathological staging of Parkinson's disease...
January 13, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29340960/higher-levels-of-progranulin-in-cerebrospinal-fluid-of-patients-with-lymphoma-and-carcinoma-with-cns-metastasis
#18
Akio Kimura, Masao Takemura, Ginette Serrero, Nobuaki Yoshikura, Yuichi Hayashi, Kuniaki Saito, Takashi Inuzuka
Assessing central nervous system (CNS) involvement in patients with lymphoma or carcinoma is important in determining therapy and prognosis. Progranulin (PGRN) is a secreted glycosylated protein with roles in cancer growth and survival; it is highly expressed in aggressive cancer cell lines and specimens from many cancer types. We examined PRGN levels by Enzyme Immuno-Assay (EIA) in cerebrospinal fluid (CSF) samples from 230 patients, including 18 with lymphoma [12 with CNS metastasis (CNS+); 6 without CNS metastasis (CNS-)], 21 with carcinomas (10 CNS+; 11 CNS-), and 191 control patients with non-cancer neurological diseases, and compared PRGN levels among these disease groups...
January 16, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29340592/neuroimmunomodulators-in-neuroborreliosis-and-lyme-encephalopathy
#19
Elizabeth A Eckman, Javier Pacheco-Quinto, Aimee R Herdt, John J Halperin
Background: Lyme encephalopathy, characterized by non-specific neurobehavioral symptoms including mild cognitive difficulties, may occur in patients with systemic Lyme disease and is often mistakenly attributed to CNS infection. Identical symptoms occur in innumerable other inflammatory states and may reflect the effect of systemic immune mediators on the CNS. Methods: Multiplex immunoassays were used to characterize the inflammatory profile in serum and CSF from Lyme and non-Lyme patients with a range of symptoms to determine if there are specific markers of active CNS infection (neuroborreliosis), or systemic inflammatory mediators associated with neurobehavioral syndromes...
January 11, 2018: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29339520/targeted-knockout-of-a-chemokine-like-gene-increases-anxiety-and-fear-responses
#20
Jung-Hwa Choi, Yun-Mi Jeong, Sujin Kim, Boyoung Lee, Krishan Ariyasiri, Hyun-Taek Kim, Seung-Hyun Jung, Kyu-Seok Hwang, Tae-Ik Choi, Chul O Park, Won-Ki Huh, Matthias Carl, Jill A Rosenfeld, Salmo Raskin, Alan Ma, Jozef Gecz, Hyung-Goo Kim, Jin-Soo Kim, Ho-Chul Shin, Doo-Sang Park, Robert Gerlai, Bradley B Jamieson, Joon S Kim, Karl J Iremonger, Sang H Lee, Hee-Sup Shin, Cheol-Hee Kim
Emotional responses, such as fear and anxiety, are fundamentally important behavioral phenomena with strong fitness components in most animal species. Anxiety-related disorders continue to represent a major unmet medical need in our society, mostly because we still do not fully understand the mechanisms of these diseases. Animal models may speed up discovery of these mechanisms. The zebrafish is a highly promising model organism in this field. Here, we report the identification of a chemokine-like gene family, samdori (sam), and present functional characterization of one of its members, sam2 We show exclusive mRNA expression of sam2 in the CNS, predominantly in the dorsal habenula, telencephalon, and hypothalamus...
January 16, 2018: Proceedings of the National Academy of Sciences of the United States of America
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