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Stefano Tozza, Raffaele Dubbioso, Rosa Iodice, Antonietta Topa, Marcello Esposito, Lucia Ruggiero, Emanuele Spina, Anna De Rosa, Francesco Saccà, Lucio Santoro, Fiore Manganelli
Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and electrophysiological follow-up of two sisters under treatment with miglustat. We report data at basal (T0) and after 4 years (T4) of treatment with miglustat from two sisters (P1 and P2) affected by NPC disease...
March 13, 2018: Neurological Sciences
Yuji Hayashino, Masatake Sugita, Hidetoshi Arima, Tetsumi Irie, Takeshi Kikuchi, Fumio Hirata
It has been found that a cyclodextrin derivative, 2-hydroxypropyl-β-cyclodextrin (HPβCD), has reasonable therapeutic effect on Niemann-Pick disease type C which is caused by abnormal accumulation of unesterified cholesterol and glycolipids in the lysosomes and shortage of esterified cholesterol in other cellular compartments. We study the binding affinity and mode of HPβCD with cholesterol in order to elucidate the possible mechanism of HPβCD for removing cholesterol from the lysosomes. The dominant binding mode of HPβCD with cholesterol is found based on the Molecular Dynamics (MD) simulation and a statistical mechanics theory of liquids, or the 3D reference interaction site model theory with Kovalenko-Hirata closure relation (3D-RISM-KH)...
March 13, 2018: Journal of Physical Chemistry. B
V Hoerr, M Franz, M W Pletz, M Diab, S Niemann, C Faber, T Doenst, P C Schulze, S Deinhardt-Emmer, B Löffler
Infective endocarditis (IE) is a life-threatening disease, caused by septic vegetations and inflammatory foci on the surface of the endothelium and the valves. Due to its complex and often indecisive presentation the mortality rate is still about 30%. Most frequently bacterial microorganisms entering the bloodstream are the underlying origin of the intracardiac infection. While the disease was primarily restricted to younger patients suffering from rheumatic heart streptococci infections, new at risk categories for Staphylococcus (S...
February 21, 2018: International Journal of Medical Microbiology: IJMM
Dieter Adelmann, Leonie Bicknell, Claus U Niemann, John Feiner, Garrett R Roll, Lyle Burdine, Elizabeth L Whitlock
BACKGROUND: During kidney transplantation, intraoperative fluid management can affect post-transplant graft function. It is unclear whether or not central venous pressure (CVP) monitoring is required to guide fluid therapy during kidney transplantation. METHODS: We compared post-transplant graft function in recipients of living donor kidney transplants between August 2006 and March 2009 based on the use or absence of intraoperative CVP monitoring. Graft function, assessed using the creatinine reduction ratio on postoperative day 2 (CCR2), was evaluated by multivariable linear regression analysis and in a propensity-matched cohort...
March 11, 2018: Clinical Transplantation
Nicki Niemann, Joseph Jankovic
The dose (mg/day) for Clonazepam which reads.
March 10, 2018: Drugs
Alanna Sedgwick, M Olivia Balmert, Crislyn D'Souza-Schorey
Aberrant cellular cholesterol accumulation contributes to the pathophysiology of many diseases including neurodegenerative disorders such as Niemann-Pick Type C (NPC) and Alzheimer's Disease1-4 . Many aspects of cholesterol efflux from cells remain elusive. Here we describe the utility of cholesterol-rich giant plasma membrane vesicles (GPMVs) as a means to monitor cholesterol that is translocated to the plasma membrane for secretion. We demonstrate that small molecules known to enhance lipid efflux, including those in clinical trials for lipid storage disorders, enhance this GPMV formation...
March 6, 2018: Experimental Cell Research
Claus Uhrenholt Christensen, Emilie Glavind, Karen Louise Thomsen, Yong Ook Kim, Sara Heebøll, Detlef Schuppan, Stephen Hamilton-Dutoit, Christian Würtz Heegaard, Henning Grønbæk
BACKGROUND AND AIMS: Hepatic cholesterol deposition drives inflammation and fibrosis in non-alcoholic steatohepatitis (NASH). The Niemann-Pick type C2 (NPC2) protein plays an important role in regulating intracellular cholesterol trafficking and homeostasis. We hypothesized that intravenous NPC2 supplementation reduces cholesterol accumulation, hepatic inflammation and fibrogenesis in a nutritional NASH rat model. METHODS: Rats were fed a high-fat, high-cholesterol (HFHC) diet for four weeks resulting in moderately severe NASH...
2018: PloS One
Michael Asger Andersen, Casper Tabassum Eriksen, Christian Brieghel, Jorne Lionel Biccler, Caspar da Cunha-Bang, Marie Helleberg, Carsten Utoft Niemann
No abstract text is available yet for this article.
March 8, 2018: Haematologica
Alberto Benussi, Maria Sofia Cotelli, Alessandro Padovani, Barbara Borroni
Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder with extensive biological, molecular, and clinical heterogeneity. Recently, numerous studies have tried to shed light on the pathophysiology of the disease, highlighting possible disease pathways common to other neurodegenerative disorders, such as Alzheimer's disease and frontotemporal dementia, and identifying possible candidate biomarkers for disease staging and response to treatment. Miglustat, which reversibly inhibits glycosphingolipid synthesis, has been licensed in the European Union and elsewhere for the treatment of NPC in both children and adults...
2018: F1000Research
Lin Lei, Jingnan Chen, Yuwei Liu, Lijun Wang, Guohua Zhao, Zhen-Yu Chen
Rice bran oil (RBO) possesses a plasma cholesterol-lowering activity, while effect of wheat bran oil (WBO) on plasma cholesterol remains unknown. The present study compared the cholesterol-lowering activity of WBO with that of RBO in hamsters. Fifty-four male hamsters were divided into seven groups fed either a noncholesterol diet (NCD) or one of six high-cholesterol diets, namely HCD diet (0.2% cholesterol +9.5% lard), HCD+C diet (0.2% cholesterol +9.5% lard +0.5% cholestyramine), WL diet (0.2% cholesterol +4...
March 9, 2018: Journal of Agricultural and Food Chemistry
S Malm, S Maaß, U E Schaible, S Ehlers, S Niemann
LytR-cpsA-Psr (LCP) domain containing proteins fulfil important functions in bacterial cell wall synthesis. In Mycobacterium tuberculosis complex (Mtbc) strains, the causative agents of tuberculosis (TB), the genes Rv3484 and Rv3267 encode for LCP proteins which are putatively involved in arabinogalactan transfer to peptidoglycan. To evaluate the significance of Rv3484 for Mtbc virulence, we generated a deletion mutant in the Mtbc strain H37Rv and studied its survival in mice upon aerosol infection. The deletion mutant failed to establish infection demonstrating that Rv3484 is essential for growth in mice...
March 2, 2018: Scientific Reports
Md Suhail Alam, Bruce Cooper, Joseph D Farris, Kasturi Haldar
Histone deacetylase (HDAC) inhibitors are of significant interest as drugs. However, their use to treat neurological disorders has raised concern because HDACs are required for brain function. We have previously shown that a triple combination formulation (TCF) of the pan HDACi vorinostat (Vo), 2-hydroxypropyl-beta-cyclodextrin (HPBCD) and polyethylene glycol (PEG) 400 improves pharmacokinetic exposure and entry of Vo into the brain. TCF treatment significantly delayed both neurodegeneration and death in the Npc1nmf164 murine model of Niemann-Pick Type C (NPC) disease...
March 1, 2018: Scientific Reports
Nicki Niemann, Joseph Jankovic
Tardive dyskinesia (TD) encompasses the spectrum of iatrogenic hyperkinetic movement disorders following exposure to dopamine receptor-blocking agents (DRBAs). Despite the advent of atypical or second- and third-generation antipsychotics with a presumably lower risk of complications, TD remains a persistent and challenging problem. Prevention is the first step in mitigating the risk of TD, but early recognition, gradual withdrawal of offending medications, and appropriate treatment are also critical. As TD is often a persistent and troublesome disorder, specific antidyskinetic therapies are often needed for symptomatic relief...
February 26, 2018: Drugs
Ke-Ji Chen, Ri-Ming Jin, Chun-Chao Shi, Rui-Liang Ge, Lei Hu, Qi-Fei Zou, Quan-Yu Cai, Guang-Zhi Jin, Kui Wang
Niemann-Pick C1-like 1 (NPC1L1) and Niemann-Pick C2 (NPC2) is a critical mediator of cholesterol absorption. The aim of the present study was to investigate the prognostic value of NPC1L1 and NPC2 in human primary hepatocellular carcinoma (HCC). The expression level of NPC1L1 and NPC2 were evaluated by Immunohistochemistry, Westen blot and Real-time Quantitative PCR. Protein expression level in tissue was represented by integral optic density (IOD). For prognosis analyses, outcome-based cut-point was calculated by X-tile software...
2018: Journal of Cancer
Inhye E Ahn, Mohammed Z H Farooqui, Xin Tian, Janet Valdez, Clare Sun, Susan Soto, Jennifer Lotter, Stephanie Housel, Maryalice Stetler-Stevenson, Constance M Yuan, Irina Maric, Katherine R Calvo, Pia Nierman, Thomas E Hughes, Nakhle S Saba, Gerald E Marti, Stefania Pittaluga, Sarah E M Herman, Carsten U Niemann, Lone B Pedersen, Christian H Geisler, Richard Childs, Georg Aue, Adrian Wiestner
Safety and efficacy of ibrutinib (420mg) in chronic lymphocytic leukemia (CLL) were evaluated in a phase II study; 51 patients had TP53 aberration (TP53 cohort) and 35 were enrolled for age ≥ 65 years (elderly cohort). Both cohorts included patients with treatment-naïve (TN) and relapsed/refractory (RR) CLL. With the median follow-up of 4.8 years, 49 (57.0%) of 86 patients remain on study. Treatment was discontinued for progressive disease in 20 (23.3%) patients and for adverse events in 5 (5.8%). Atrial fibrillation occurred in 18 (20...
February 26, 2018: Blood
Fatemeh Zali, Maryam Teimouri, Parisa Shabani, Akram Vatannejad, Mahdi Najafi, Hossein Shateri, Mostafa Asadnia, Mahmood Doosti
BACKGROUND: Recent studies showed that atherosclerosis is a lysosomal storage disease (LSD) and Niemann-Pick disease type C1 (NPC1) is the most important protein of the lysosomal membrane that is involved in the removal of FC from lysosomes. Whereas several in vitro and in vivo studies have described the crosstalk between lysosomal cholesterol accumulation and increased inflammation, there is no study addressing the correlation between NPC1 gene expression and an anti-inflammatory cytokine, interleukin 10 (IL-10) serum concentration in atherosclerotic patients...
January 1, 2018: Clinical Laboratory
Bénédicte Sudrié-Arnaud, Florent Marguet, Sophie Patrier, Jelena Martinovic, Ferielle Louillet, Françoise Broux, Françoise Charbonnier, Hélène Dranguet, Sophie Coutant, Myriam Vezain, Raphaël Lanos, Abdellah Tebani, Maria Fuller, Foudil Lamari, Pascal Chambon, Anne-Claire Brehin, Laetitia Trestard, Isabelle Tournier, Stéphane Marret, Eric Verspyck, Annie Laquerrière, Soumeya Bekri
PURPOSES: Hydrops fetalis is a life-threatening fetal condition, and 85% of all cases are classified as nonimmune hydrops fetalis (NIHF). Up to 15% of NIHF cases may be due to inborn errors of metabolism (IEM), but a large proportion of cases linked to metabolic disorders remains undiagnosed. This lack of diagnosis may be related to the limitations of conventional biological procedures, which involve sequential investigations and require multiple samples and steps. In addition, this approach is time consuming...
February 21, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Jiao Zhu, Mengbuo Guo, Liping Ban, Li-Mei Song, Yang Liu, Paolo Pelosi, Guirong Wang
Niemann-Pick proteins type C2 (NPC2) are carriers of cholesterol in vertebrates, with a single member in each species. The high sequence conservation between mammals and across vertebrates is related to their common function. In contrast, NPC2 proteins in arthropods have undergone extensive duplication and differentiation, probably under environmental pressure, and are likely to have different functions. Recent studies have suggested that in arthropods these proteins might act as carriers for semiochemicals and other hydrophobic compounds...
2018: Frontiers in Physiology
Dieter Adelmann, Andrea Olmos, Linda L Liu, John R Feiner, Garrett R Roll, Lyle Burdine, Mehdi Tavakol, Shareef Syed, Babak J Orandi, Claus U Niemann
BACKGROUND: Renal failure is common among patients undergoing liver transplantation. Liver allocation based on the MELD score has increased the number of recipients who require perioperative RRT. Although renal replacement therapy (RRT) can be continued intraoperatively, the risks and benefits of intraoperative RRT are not well defined. The aim of this study is to report the intraoperative management of patients with pretransplant renal failure at a transplant center with extremely infrequent utilization of intraoperative RRT...
February 20, 2018: Transplantation
J Malcikova, E Tausch, D Rossi, L A Sutton, T Soussi, T Zenz, A P Kater, C U Niemann, D Gonzalez, F Davi, M Gonzalez Diaz, C Moreno, G Gaidano, K Stamatopoulos, R Rosenquist, S Stilgenbauer, P Ghia, S Pospisilova
In chronic lymphocytic leukemia (CLL), TP53 gene defects, due to deletion of the 17p13 locus and/or mutation(s) within the TP53 gene, are associated with resistance to chemoimmunotherapy and a particularly dismal clinical outcome. On these grounds, analysis of TP53 aberrations has been incorporated into routine clinical diagnostics to improve patient stratification and optimize therapeutic decisions. The predictive implications of TP53 aberrations have increasing significance in the era of novel targeted therapies, i...
February 2, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
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