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Pick's Disease

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https://www.readbyqxmd.com/read/29457916/systematic-review-of-psychiatric-signs-in-niemann-pick-disease-type-c
#1
Olivier Bonnot, Hans-Hermann Klünemann, Christian Velten, Juan Vicente Torres Martin, Mark Walterfang
OBJECTIVES: We conducted the first systematic literature review and analysis of psychiatric manifestations in Niemann-Pick disease type C (NPC) to describe: 1) time of occurrence of psychiatric manifestations relative to other disease manifestations; 2) frequent combinations of psychiatric, neurological and visceral disease manifestations. METHODS: A systematic EMBase literature search was conducted to identify, collate and analyze published data from patients with NPC associated with psychiatric symptoms, published between January 1967 and November 2015...
February 19, 2018: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29453884/daratumumab-resistance-is-frequent-in-advanced-stage-multiple-myeloma-patients-irrespectively-of-cd38-expression-and-is-related-to-dismal-prognosis
#2
M Pick, V Vainstein, N Goldschmidt, D Lavie, D Libster, A Gural, S Grisariu, B Avni, D Ben Yehuda, M E Gatt
OBJECTIVE: Daratumumab is a promising new anti-myeloma agent. We report a single center "real world" series of multiple myeloma (MM) and amyloidosis (AL) patients treated with daratumumab. METHODS: Forty-one patients were included: 7 second line MM, 30 heavily pretreated (median number of therapies of 5) advanced MM, and 4 with AL. RESULTS: Second line patients and advanced AL showed high rate of durable overall responses. However, advanced MM patients had a dismal prognosis with an ORR of 36%, and a short median progression free and overall survival of 2...
February 17, 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29453517/probable-diagnosis-of-a-patient-with-niemann-pick-disease-type-c-managing-pitfalls-of-exome-sequencing
#3
William A Zeiger, Nasheed I Jamal, Maren T Scheuner, Patricia Pittman, Kimiyo M Raymond, Massimo Morra, Shri K Mishra
Here, we present a case of a 31-year-old man with progressive cognitive decline, ataxia, and dystonia. Extensive laboratory, radiographic, and targeted genetic studies over the course of several years failed to yield a diagnosis. Initial whole exome sequencing through a commercial laboratory identified several variants of uncertain significance; however, follow-up clinical examination and testing ruled each of these out. Eventually, repeat whole exome sequencing identified a known pathogenic intronic variant in the NPC1 gene (NM_000271...
February 17, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29453244/white-matter-change-with-apathy-and-impulsivity-in-frontotemporal-lobar-degeneration-syndromes
#4
Claire J Lansdall, Ian T S Coyle-Gilchrist, P Simon Jones, Patricia Vázquez Rodríguez, Alicia Wilcox, Eileen Wehmann, Katrina M Dick, Trevor W Robbins, James B Rowe
OBJECTIVE: To identify the white matter correlates of apathy and impulsivity in the major syndromes associated with frontotemporal lobar degeneration, using diffusion-weighted imaging and data from the PiPPIN (Pick's Disease and Progressive Supranuclear Palsy: Prevalence and Incidence) study. We included behavioral and language variants of frontotemporal dementia, corticobasal syndrome, and progressive supranuclear palsy. METHODS: Seventy patients and 30 controls underwent diffusion tensor imaging at 3-tesla after detailed assessment of apathy and impulsivity...
February 16, 2018: Neurology
https://www.readbyqxmd.com/read/29447902/the-erythrocyte-osmotic-resistance-test-as-screening-tool-for-cholesterol-related-lysosomal-storage-diseases
#5
Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Ralf Köhler, Pilar Giraldo
BACKGROUND: Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs...
February 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#6
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29432455/vector-borne-disease-risk-indexes-in-spatially-structured-populations
#7
Jorge Velázquez-Castro, Andrés Anzo-Hernández, Beatriz Bonilla-Capilla, Moisés Soto-Bajo, Andrés Fraguela-Collar
There are economic and physical limitations when applying prevention and control strategies for urban vector borne diseases. Consequently, there are increasing concerns and interest in designing efficient strategies and regulations that health agencies can follow in order to reduce the imminent impact of viruses like Dengue, Zika and Chikungunya. That includes fumigation, abatization, reducing the hatcheries, picking up trash, information campaigns. A basic question that arise when designing control strategies is about which and where these ones should focus...
February 12, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29431164/recommendations-for-the-detection-and-diagnosis-of-niemann-pick-disease-type-c-an-update
#8
REVIEW
Marc C Patterson, Peter Clayton, Paul Gissen, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Andrea Dardis, Carlo Dionisi-Vici, Hans-Hermann Klünemann, Philippe Latour, Charles M Lourenço, Daniel S Ory, Alasdair Parker, Miguel Pocoví, Michael Strupp, Marie T Vanier, Mark Walterfang, Thorsten Marquardt
Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. Recent findings: New biomarker profiling and genetic analysis technologies are included as first-line diagnostic tests for NP-C...
December 2017: Neurology. Clinical Practice
https://www.readbyqxmd.com/read/29431050/tdp-43-post-translational-modifications-in-health-and-disease
#9
Emanuele Buratti
Nuclear factor TDP-43 is a ubiquitously expressed RNA binding protein that plays a key causative role in several neurodegenerative diseases, especially in the ALS/FTD spectrum. In addition, its aberrant aggregation and expression has been recently observed in other type of diseases, such as myopathies and Niemann-Pick C, a lysosomal storage disease. Areas Covered. This review aims to specifically cover the post-translational modifications (PTMs) that can affect TDP-43 function and cellular status both in health and disease...
February 10, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29429782/long-term-treatment-of-niemann-pick-type-c1-disease-with-intrathecal-2-hydroxypropyl-%C3%AE-cyclodextrin
#10
Elizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, Amy Winston, Robin Stoner, Lisa LaGorio, Katherine Friedmann, Mariana Hernandez, Daniel S Ory, Forbes D Porter, Joan A O'Keefe
BACKGROUND: Intrathecal 2-hydoxypropyl-β-cyclodextrin has been found to mobilize cholesterol, extend life, reduce cerebellar pathology, and delay onset of ataxia in the mouse and cat models of Niemann-Pick disease, type C1, a clinically variable progressive and ultimately fatal neurodegenerative storage disorder characterized by endolysosomal accumulation of unesterified cholesterol. OBJECTIVE: In this study, the long-term effects of intrathecal 2-hydoxypropyl-β-cyclodextrin treatment for 2...
January 8, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29416692/the-prognostic-value-of-nrf2-in-solid-tumor-patients-a-meta-analysis
#11
Lingling Wang, Chunze Zhang, Litao Qin, Jingyue Xu, Xiaobo Li, Wenhong Wang, Lingqin Kong, Taizhen Zhou, Xichuan Li
Nuclear factor E2-related factor 2 (NRF2), a transcription factor, is known as a potential therapeutic target of solid tumor for that it is a master regulator of the injury and inflammation response, including controlling antioxidant cell progress. Recent studies showed that NRF2 played significant roles in tumorigenesis and tumor progression, however no association and relationship between NRF2 expression and different clinical manifestation of solid tumor had been accurately evaluated. The present meta-analysis picked up 17 suitable articles from EMBASE, PubMed, and ISI Web of Science databases, including 2238 patients...
January 2, 2018: Oncotarget
https://www.readbyqxmd.com/read/29415343/picking-the-winners-outcome-prediction-in-pleural-disease
#12
EDITORIAL
John P Corcoran, Najib M Rahman
No abstract text is available yet for this article.
February 7, 2018: Respirology: Official Journal of the Asian Pacific Society of Respirology
https://www.readbyqxmd.com/read/29415231/detection-of-alzheimer-disease-ad-specific-tau-pathology-in-ad-and-nonad-tauopathies-by-immunohistochemistry-with-novel-conformation-selective-tau-antibodies
#13
Garrett S Gibbons, Rachel A Banks, Bumjin Kim, Lakshmi Changolkar, Dawn M Riddle, Susan N Leight, David J Irwin, John Q Trojanowski, Virginia M Y Lee
Aggregation of tau into fibrillar structures within the CNS is a pathological hallmark of a clinically heterogeneous set of neurodegenerative diseases termed tauopathies. Unique misfolded conformations of tau, referred to as strains, are hypothesized to underlie the distinct neuroanatomical and cellular distribution of pathological tau aggregates. Here, we report the identification of novel tau monoclonal antibodies (mAbs) that selectively bind to an Alzheimer disease (AD)-specific conformation of pathological tau...
February 5, 2018: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29411332/a-pilot-study-of-direct-delivery-of-hydroxypropyl-beta-cyclodextrin-to-the-lung-by-the-nasal-route-in-a-mouse-model-of-niemann-pick-c1-disease-motor-performance-is-unaltered-and-lung-disease-is-worsened
#14
Robert P Erickson, Gail Deutsch, Ruturaj Patil
We have tested the efficacy of hydroxypropyl-beta-cyclodextrin (HPBCD) delivered by the nasal route in the mouse model of juvenile Niemann-Pick C1 disease (NPC1), as pulmonary disease has not responded to systemic therapy with this drug. Since mice have no gag reflex, coating of the nasal cavity, with possible access to the brain, would be followed by delivery of HPBCD to the lung. While foamy macrophages, containing stored cholesterol, were found in the Npc1 nmf164 homozygous mice, a marked inflammatory response was found with inhaled HPBCD, both in mutant and wild-type animals...
February 6, 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29411209/crohn-s-disease-in-niemann-pick-disease-type-c1-caught-in-the-cross-fire-of-host-microbial-interactions
#15
EDITORIAL
Athena Cavounidis, Holm H Uhlig
No abstract text is available yet for this article.
February 6, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29406968/lovastatin-promotes-myelin-formation-in-npc1-mutant-oligodendrocytes
#16
Fan Yang, Xiao Feng, Arndt Rolfs, Jiankai Luo
Niemann-Pick Type C (NPC) disease is a rare neurovisceral disorder caused by mutations of either NPC1 or NPC2 gene and characterized by defective intracellular transport of cholesterol and glycosphingolipids, leading to neuron loss and myelin aberration in the central nervous system. In this study, by comparing protein expression in the cortical white matter tracts from mice at different postnatal days, we identified that in the NPC1 mutant (NPC1-/-) mice, the onset of myelination is delayed and the amount of the major myelin protein MBP and PLP, and oligodendrocyte regulatory factor Olig1 and Olig2, but not NG2 and Sox10, decreased significantly, suggesting a disruption of oligodendrocyte differentiation...
March 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29406900/symptomatic-orthostatic-hypotension-in-parkinson-s-disease-patients-prevalence-associated-factors-and-its-impact-on-balance-confidence
#17
Siranan Klanbut, Siripan Phattanarudee, Supakit Wongwiwatthananukit, Chuthamanee Suthisisang, Roongroj Bhidayasiri
BACKGROUND: Orthostatic hypotension (OH) is a commonly reported sign of the cardiovascular autonomic dysfunctions associated with Parkinson's disease (PD). Patients might suffer from a variety of the clinical symptoms of OH, including dizziness, lightheadedness, or problems with vision and fatigue. OBJECTIVES: To determine the prevalence of, and factors associated with, symptomatic orthostatic hypotension (OH) in Parkinson's disease (PD) and to identify any relationships between the clinical symptoms of OH and balance confidence in this patient population...
February 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29397865/the-role-of-purkinje-cell-derived-vegf-in-cerebellar-astrogliosis-in-niemann-pick-type-c-mice
#18
Min Hee Park, Ju Youn Lee, Min Seock Jeong, Hyung Sup Jang, Shogo Endo, Jae-Sung Bae, Hee Kyung Jin
Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative disorder caused by a deficiency of NPC1 gene function, which leads to severe neuroinflammation such as astrogliosis. While reports demonstrating neuroinflammation are prevalent in NP-C, information about the onset and progression of cerebellar astrogliosis in this disorder is lacking. Using gene targeting, we generated vascular endothelial growth factor (VEGF) conditional null mutant mice. Deletion of VEGF in cerebellar Purkinje neurons (PNs) led to a significant increase of astrogliosis in the brain of NP-C mice in addition to the loss of PNs, suggesting PN-derived VEGF as an important factor in NP-C pathology...
February 5, 2018: BMB Reports
https://www.readbyqxmd.com/read/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#19
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29390035/correction-characterization-of-hydroxypropyl-beta-cyclodextrins-used-in-the-treatment-of-niemann-pick-disease-type-c1
#20
Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling
[This corrects the article DOI: 10.1371/journal.pone.0175478.].
2018: PloS One
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