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Pick's Disease

Giovannella Baggio
OBJECTIVES: From1995 (Beijing Conference) the World Health Organization strongly did call the attention on the need of great attention to women health and on the lack of studies on the differences in medicine between men and women. From the women health attention we arrived to gender medicine that is a transversal dimension of medicine which describes the differences within the same disease of symptoms, clinical evolution, drug therapy as well as prevention between men and women. METHODS: From some real life examples in this article we wish to make it clear that gender medicine is not a separated medical specialty but a dimension which pass through all specialties...
November 2017: Giornale Italiano di Medicina del Lavoro Ed Ergonomia
N M Sharath Babu, Sirish C Srinath, Anandaroop Lahiri, David Chase, Bobby John, John Roshan
Background and objectives: Right ventricular (RV) pacing can lead to progressive ventricular dysfunction over a certain period. This pacemaker-induced cardiomyopathy (PiCMP) may be more common than previously reported. Speckle tracking imaging is a recent development in echocardiography that can identify left ventricular (LV) dysfunction even before the LV ejection fraction (LVEF) value decreases. Three-dimensional (3D) echocardiography has made more accurate assessment of LVEF possible...
April 2018: Journal of the Saudi Heart Association
Othman Soufan, Wail Ba-Alawi, Arturo Magana-Mora, Magbubah Essack, Vladimir B Bajic
High-throughput screening (HTS) performs the experimental testing of a large number of chemical compounds aiming to identify those active in the considered assay. Alternatively, faster and cheaper methods of large-scale virtual screening are performed computationally through quantitative structure-activity relationship (QSAR) models. However, the vast amount of available HTS heterogeneous data and the imbalanced ratio of active to inactive compounds in an assay make this a challenging problem. Although different QSAR models have been proposed, they have certain limitations, e...
June 14, 2018: Scientific Reports
Arnulf H Koeppen
This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei (especially the dentate nuclei), and the inferior olivary nuclei. The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, spinocerebellar ataxia, and Friedreich ataxia...
2018: Handbook of Clinical Neurology
Soo Min Cho, Ayelet Vardi, Nicolas Platt, Anthony H Futerman
Approximately 70 lysosomal storage diseases are currently known, resulting from mutations in genes encoding lysosomal enzymes and membrane proteins. Defects in lysosomal enzymes that hydrolyze sphingolipids have been relatively well studied. Gaucher disease is caused by the loss of activity of glucocerebrosidase, leading to accumulation of glucosylceramide. Gaucher disease exhibits a number of subtypes, with types 2 and 3 showing significant neuropathology. Sandhoff disease results from the defective activity of β-hexosaminidase, leading to accumulation of ganglioside GM2...
June 14, 2018: Journal of Neurochemistry
Sumihiko Hagita, Maximillian A Rogers, Tan Pham, Jennifer R Wen, Andrew K Mlynarchik, Masanori Aikawa, Elena Aikawa
The sorting receptor Sortilin functions in the regulation of glucose and lipid metabolism. Dysfunctional lipid uptake, storage, and metabolism contribute to several major human diseases including atherosclerosis and obesity. Sortilin associates with cardiovascular disease; however, the role of Sortilin in adipose tissue and lipid metabolism remains unclear. Here we show that in the low-density lipoprotein receptor-deficient (Ldlr-/- ) atherosclerosis model, Sortilin deficiency (Sort1-/- ) in female mice suppresses Niemann-Pick type C1-Like 1 (Npc1l1) mRNA levels, reduces body and white adipose tissue weight, and improves brown adipose tissue function partially via transcriptional downregulation of Krüppel-like factor 4 and Liver X receptor...
June 13, 2018: Scientific Reports
Yusheng Lin, Xiaolian Caia, Guiping Wang, Gang Ouyang, Hong Cao
Niemann-Pick Type C disease (NPC) is a rare human disease, with limited effective treatment options. Most cases of NPC disease are associated with inactivating mutations of the NPC1 gene. However, cellular and molecular mechanisms responsible for the NPC1 pathogenesis remain poorly defined. This is partly due to the lack of a suitable animal model to monitor the disease progression. In this study, we used CRISPR to construct an NPC1-/- zebrafish model, which faithfully reproduced the cardinal pathological features of this disease...
June 1, 2018: Biological Chemistry
Sarah Thome, Daniela Begandt, Robert Pick, Melanie Salvermoser, Barbara Walzog
BACKGROUND: Neutrophil recruitment during acute inflammation critically depends on the spatial and temporal regulation of β2 integrins (CD11/CD18). This regulation occurs by inside-out and outside-in signaling via interaction of cytoplasmic proteins with the intracellular domains of the integrin α- and β-subunits. The underlying molecular mechanisms regulating β2 integrins in neutrophils are still incompletely understood. AIM: This review provides a comprehensive overview of our current knowledge on proteins interacting with the cytoplasmic tail of CD18, the conserved β-subunit of β2 integrins, their regulation and their functional importance for neutrophil trafficking during acute inflammation...
June 13, 2018: European Journal of Clinical Investigation
Gabor G Kovacs, Sharon X Xie, John L Robinson, Edward B Lee, Douglas H Smith, Theresa Schuck, Virginia M-Y Lee, John Q Trojanowski
Aging-related tau astrogliopathy (ARTAG) describes tau pathology in astrocytes in different locations and anatomical regions. In the present study we addressed the question of whether sequential distribution patterns can be recognized for ARTAG or astroglial tau pathologies in both primary FTLD-tauopathies and non-FTLD-tauopathy cases. By evaluating 687 postmortem brains with diverse disorders we identified ARTAG in 455. We evaluated frequencies and hierarchical clustering of anatomical involvement and used conditional probability and logistic regression to model the sequential distribution of ARTAG and astroglial tau pathologies across different brain regions...
June 11, 2018: Acta Neuropathologica Communications
Stefania Chetcuti Zammit, Reena Sidhu, David S Sanders
Coeliac disease is an autoimmune mediated condition in response to gluten. A combination of innate and adaptive immune responses results in villous shortening in the small bowel which can be morphologically picked up on capsule endoscopy. Small bowel capsule endoscopy is the only imaging modality that can provide mucosal views of the whole length of the small bowel whilst histology is generally limited to the proximal small bowel. Radiological modalities are not designed to pick up changes in villous morphology...
June 10, 2018: Expert Review of Gastroenterology & Hepatology
Adam M Lopez, Ryan Dale Jones, Joyce J Repa, Stephen D Turley
Cholesteryl esters are generated at multiple sites in the body by sterol O-acyltransferase 1 (SOAT1) or sterol O-acyltransferase 2 (SOAT2) in various cell types, and lecithin cholesterol acyltransferase (LCAT) in plasma. Esterified cholesterol (EC) and triacylglycerol (TAG) contained in lipoproteins cleared from the circulation via receptor-mediated or bulk-phase endocytosis are hydrolyzed by lysosomal acid lipase (LAL) within the late endosomal/lysosomal (E/L) compartment. Then, through the successive actions of Niemann-Pick C2 (NPC2) and Niemann-Pick C1 (NPC1), unesterified cholesterol (UC) is exported from the E/L compartment to the cytosol...
June 7, 2018: American Journal of Physiology. Gastrointestinal and Liver Physiology
Michael P Hughes, Dave A Smith, Lauren Morris, Claire Fletcher, Alexandria Colaco, Mylene Huebecker, Julie Tordo, Nuria Palomar, Giulia Massaro, Els Henckaerts, Simon N Waddington, Frances M Platt, Ahad A Rahim
Niemann-Pick type C disease (NP-C) is a fatal neurodegenerative lysosomal storage disorder. It is caused in 95% of cases by a mutation in the NPC1 gene that encodes NPC1, an integral transmembrane protein localised to the limiting membrane of the lysosome. There is no cure for NP-C but there is a disease-modifying drug (miglustat) that slows disease progression but with associated side effects. Here, we demonstrate in a well-characterised mouse model of NP-C that a single administration of AAV-mediated gene therapy to the brain can significantly extend lifespan, improve quality of life, prevent or ameliorate neurodegeneration, reduce biochemical pathology and normalize or improve various indices of motor function...
June 5, 2018: Human Molecular Genetics
John L Robinson, Edward B Lee, Sharon X Xie, Lior Rennert, EunRan Suh, Colin Bredenberg, Carrie Caswell, Vivianna M Van Deerlin, Ning Yan, Ahmed Yousef, Howard I Hurtig, Andrew Siderowf, Murray Grossman, Corey T McMillan, Bruce Miller, John E Duda, David J Irwin, David Wolk, Lauren Elman, Leo McCluskey, Alice Chen-Plotkin, Daniel Weintraub, Steven E Arnold, Johannes Brettschneider, Virginia M-Y Lee, John Q Trojanowski
Lewy bodies commonly occur in Alzheimer's disease, and Alzheimer's disease pathology is frequent in Lewy body diseases, but the burden of co-pathologies across neurodegenerative diseases is unknown. We assessed the extent of tau, amyloid-β, α-synuclein and TDP-43 proteinopathies in 766 autopsied individuals representing a broad spectrum of clinical neurodegenerative disease. We interrogated pathological Alzheimer's disease (n = 247); other tauopathies (n = 95) including Pick's disease, corticobasal disease and progressive supranuclear palsy; the synucleinopathies (n = 164) including multiple system atrophy and Lewy body disease; the TDP-43 proteinopathies (n = 188) including frontotemporal lobar degeneration with TDP-43 inclusions and amyotrophic lateral sclerosis; and a minimal pathology group (n = 72)...
June 5, 2018: Brain: a Journal of Neurology
Abhishek Soni, Kuppusamy Gowthamarajan, Arun Radhakrishnan
Over the past few decades, the concept of personalized medicine has proved to play an important role in the healthcare sector. Personalized medicine modifies the current dosage forms according to the needs of the patient. Based on this improved concept, we are now able to bring out best treatment options for a particular individual leading to better therapeutic outcomes and decreased adverse effects. It also has the potential to identify the disease at an earlier stage. It links the diseased condition of a person to the basic genetic and molecular profile causing better understanding of the condition of the patient and to pick out better treatment options...
March 2018: International Journal of Pharmaceutical Compounding
Andreas Johnen, Matthias Pawlowski, Thomas Duning
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, progressive neurodegenerative disease caused by mutations in the NPC1 or the NPC2 gene. Neurocognitive deficits are common in NP-C, particularly in patients with the adolescent/adult-onset form. As a disease-specific therapy is available, it is important to distinguish clinically between the cognitive profiles in NP-C and primary dementia (e.g., early Alzheimer's disease; eAD). METHODS: In a prospective observational study, we directly compared the neurocognitive profiles of patients with confirmed NP-C (n = 7) and eAD (n = 15)...
June 5, 2018: Orphanet Journal of Rare Diseases
Sarah Alton, Lisa Farndon
Chronic obstructive pulmonary disease (COPD) is a common long-term condition involving restricted airflow, which reduces quality of life. Treatments include lifestyle changes (smoking cessation), pulmonary rehabilitation and medication with inhaled therapies. However, medication adherence is often suboptimal, resulting in poor health outcomes. A pilot project assessed the impact of medicines management support from a community pharmacy team for people with COPD, delivered in their own homes. Individuals were given a medication review and an assessment of their inhaler technique and were followed up at 3 and 6 months...
June 2, 2018: British Journal of Community Nursing
Aparna Kadambi, Oleg Epelbaum, Anna Rozenshtein
No abstract text is available yet for this article.
April 2018: Annals of the American Thoracic Society
Elisabet Barbero-Camps, Vicente Roca-Agujetas, Isabel Bartolessis, Cristina de Dios, Jose C Fernández-Checa, Montserrat Marí, Albert Morales, Tobias Hartmann, Anna Colell
Macroautophagy/autophagy failure with the accumulation of autophagosomes is an early neuropathological feature of Alzheimer disease (AD) that directly affects amyloid beta (Aβ) metabolism. Although loss of presenilin 1 function has been reported to impair lysosomal function and prevent autophagy flux, the detailed mechanism leading to autophagy dysfunction in AD remains to be elucidated. The resemblance between pathological hallmarks of AD and Niemann-Pick Type C disease, including endosome-lysosome abnormalities and impaired autophagy, suggests cholesterol accumulation as a common link...
June 4, 2018: Autophagy
Jing Yu, Xue Li, Nathanael Matei, Devin McBride, Jiping Tang, Min Yan, John H Zhang
Autophagy activation exerts neuroprotective effects in the ischemic stroke model. Ezetimibe (Eze), a Niemann-Pick disease type C1-Like 1 (NPC1L1) pharmacological inhibitor, has been reported to protect hepatocytes from apoptosis via autophagy activation. In this study, we explored whether Eze could attenuate neuronal apoptosis in the rat model of middle cerebral artery occlusion (MCAO), specifically via activation of the AMPK/ULK1/autophagy pathway. Two hundred and one male Sprague-Dawley rats were subjected to transient MCAO followed by reperfusion...
May 28, 2018: Experimental Neurology
İsmail Umut Onur, Memhet Fatih Aşula, Cansu Ekinci, Meral Mert
INTRODUCTION: Niemann-Pick disease (NPD) is a hereditary lysosomal storage disorder in which mutations in the sphingomyelin phosphodiesterase gene leads to partial or complete deficiency of the sphingomyelinase enzyme. Niemann-Pick Type B is the intermediate form associated with hepatosplenomegaly, foam cells in the bone marrow, hyperlipidemia and diffuse pulmonary infiltrates, which is generally diagnosed in late adolescence. Central nervous system is not affected, and some cases may display macular halo...
May 29, 2018: International Ophthalmology
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