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Pick's Disease

Emilie Venables, Jeffrey K Edwards, Saar Baert, William Etienne, Kelly Khabala, Helen Bygrave
INTRODUCTION: The number of people on antiretroviral therapy (ART) for the long-term management of HIV in low- and middle-income countries (LMICs) is continuing to increase, along with the prevalence of Non-Communicable Diseases (NCDs). The need to provide large volumes of HIV patients with ART has led to significant adaptations in how medication is delivered, but access to NCD care remains limited in many contexts. Medication Adherence Clubs (MACs) were established in Kibera, Kenya to address the large numbers of patients requiring chronic HIV and/or NCD care...
2016: PloS One
Takeshi Funakoshi, Toshihiko Aki, Masateru Tajiri, Kana Unuma, Koichi Uemura
Aberrant cellular accumulation of cholesterol is associated with neuronal lysosomal storage disorders such as Niemann-Pick disease Type C (NPC). We have shown previously that l-norephedrine (l-Nor), a sympathomimetic amine, induces necrotic cell death associated with massive cytoplasmic vacuolation in SH-SY5Y human neuroblastoma cells. To reveal the molecular mechanism underling necrotic neuronal cell death caused by l-Nor, we examined alterations in the gene expression profile of cells during l-Nor exposure...
October 18, 2016: Journal of Biological Chemistry
Mansi R Khanna, Jane Kovalevich, Virginia M-Y Lee, John Q Trojanowski, Kurt R Brunden
A group of neurodegenerative diseases referred to as tauopathies are characterized by the presence of brain cells harboring inclusions of pathological species of the tau protein. These disorders include Alzheimer's disease and frontotemporal lobar degeneration due to tau pathology, including progressive supranuclear palsy, corticobasal degeneration, and Pick's disease. Tau is normally a microtubule (MT)-associated protein that appears to play an important role in ensuring proper axonal transport, but in tauopathies tau becomes hyperphosphorylated and disengages from MTs, with consequent misfolding and deposition into inclusions that mainly affect neurons but also glia...
October 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
Tyler Friedrich, Stephen Leong, Christopher H Lieu
Despite numerous breakthroughs in the understanding of colorectal cancer and identification of many oncogenic mutations, the treatment of metastatic colorectal cancer remains relatively more empiric than targeted. Testing for mutations in rat sarcoma virus (RAS) and rapidly growing fibrosarcoma (RAF) are routinely performed, though identification of these mutations currently offers little more than a negative predictive marker for response to EGFR inhibitor treatment and, in the case of RAF mutation, a poor prognostic indicator...
October 2016: Journal of Gastrointestinal Oncology
R Rabl, A Horvath, C Breitschaedel, S Flunkert, H Roemer, B Hutter-Paier
BACKGROUND: Evaluation of motor deficits in rodents is mostly restricted to limb motor tests that are often high stressors for the animals. NEW METHOD: To test rodents for orofacial motor impairments in a stress-free environment, we established the pasta gnawing test by measuring the biting noise of mice that eat a piece of spaghetti. Two parameters were evaluated, the biting speed and the biting peaks per biting episode. To evaluate the power of this test compared to commonly used limb motor and muscle strength tests, three mouse models of Parkinson's disease, amyotrophic lateral sclerosis and Niemann pick disease were tested in the pasta gnawing test, RotaRod and wire suspension test...
October 13, 2016: Journal of Neuroscience Methods
Yuki Kondo, Hiroko Tokumaru, Yoichi Ishitsuka, Tomoko Matsumoto, Makiko Taguchi, Keiichi Motoyama, Taishi Higashi, Hidetoshi Arima, Muneaki Matsuo, Katsumi Higaki, Kousaku Ohno, Tetsumi Irie
No abstract text is available yet for this article.
October 9, 2016: Molecular Genetics and Metabolism
Jing Han, Peng Wang, Shaohua Ge
The object of this study is to characterize the bacterial community of subgingival plaque of two subjects with generalized aggressive periodontitis (GAgP) pre- and post-treatment. We picked two patients with GAgP and used high-throughput 16S rDNA sequencing. V4 hypervariable region was picked for PCR amplification of subgingival samples. Then, the PCR products were sequenced through Illumina MiSeq platform. One month after therapy, both the clinical features and periodontal parameters improved obviously. Moreover, the composition and structure of subgingival bacterial community changed after initial periodontal therapy...
October 8, 2016: Oncotarget
Yan-Feng Zhou, Matthew C Metcalf, Scott C Garman, Tim Edmunds, Huawei Qiu, Ronnie R Wei
Acid sphingomyelinase (ASM) hydrolyzes sphingomyelin to ceramide and phosphocholine, essential components of myelin in neurons. Genetic alterations in ASM lead to ASM deficiency (ASMD) and have been linked to Niemann-Pick disease types A and B. Olipudase alfa, a recombinant form of human ASM, is being developed as enzyme replacement therapy to treat the non-neurological manifestations of ASMD. Here we present the human ASM holoenzyme and product bound structures encompassing all of the functional domains. The catalytic domain has a metallophosphatase fold, and two zinc ions and one reaction product phosphocholine are identified in a histidine-rich active site...
October 11, 2016: Nature Communications
Tracey G Simon, Kathleen E Corey, Raymond T Chung, Robert Giugliano
Nonalcoholic fatty liver disease (NAFLD) is widely considered to be the hepatic manifestation of the metabolic syndrome and is closely linked to dyslipidemia, obesity, and insulin resistance. Patients with NAFLD have increased mortality when compared to the general population, primarily related to cardiovascular disease or malignancy. The biologic mechanisms that link NAFLD to cardiovascular disease include expansion of visceral adipose tissue, atherogenic dyslipidemia, impaired insulin signaling, systemic inflammation, and endothelial dysfunction...
October 6, 2016: Digestive Diseases and Sciences
Constantin Brinkmann, Inga Nehlmeier, Kerstin Walendy-Gnirß, Julia Nehls, Mariana González Hernández, Markus Hoffmann, Xiangguo Qiu, Ayato Takada, Michael Schindler, Stefan Pöhlmann
: The glycoprotein of Ebola virus (EBOV-GP), a member of the Filoviridae family, facilitates viral entry into target cells. In addition, EBOV-GP antagonizes the antiviral activity of the host cell protein tetherin, which may otherwise restrict EBOV-release from infected cells. However, it is unclear how EBOV-GP antagonizes tetherin and it is unknown whether the GP of Lloviu virus (LLOV), a filovirus found in dead bats in Northern Spain, also counteracts tetherin. Here, we show that LLOV-GP antagonizes tetherin, indicating that tetherin may not impede LLOV spread in human cells...
October 5, 2016: Journal of Virology
Nicoletta Vonesch, Maria Concetta D'Ovidio, Paola Melis, Maria Elena Remoli, Maria Grazia Ciufolini, Paola Tomao
INTRODUCTION: Risks associated with climate change are increasing worldwide and the global effects include altered weather and precipitation patterns, rising temperatures and others; human health can be affected directly and indirectly. This paper is an overview of literature regarding climate changes, their interaction with vector-borne diseases and impact on working population. MATERIALS AND METHODS: Articles regarding climate changes as drivers of vector-borne diseases and evidences of occupational cases have been picked up by public databank...
July 2016: Annali Dell'Istituto Superiore di Sanità
Qinghua Yuan, Zhenyan Fu, Jian Wei, Pei-Shan Li, Hong-Hua Miao, Yu-Xiu Qu, Jie Xu, Jie Qin, Bo-Liang Li, Bao-Liang Song, Yitong Ma
BACKGROUND: Plasma levels of low-density lipoprotein cholesterol (LDL-C) are a major risk factor for cardiovascular disease and are influenced by both heredity and dietary habits. The Niemann-Pick C1 like 1 (NPC1L1) protein mediates efficient dietary cholesterol absorption and contributes to variations in human LDL-C levels. METHODS: In the present study, using high throughput sequencing we identified three non-synonymous (NS) variations and 64 synonymous variations in the NPC1L1 gene from subsets of Chinese Han, Uygur and Kazakh populations with high or low LDL-C...
October 28, 2016: Biochemical and Biophysical Research Communications
Yoojin Seo, Hyung-Sik Kim, Insung Kang, Soon Won Choi, Tae-Hoon Shin, Ji-Hee Shin, Byung-Chul Lee, Jin Young Lee, Jae-Jun Kim, Myung Geun Kook, Kyung-Sun Kang
Microglia can aggravate olfactory dysfunction by mediating neuronal death in the olfactory bulb (OB) of a murine model of Niemann-Pick disease type C1 (NPC1), a fatal neurodegenerative disorder accompanied by lipid trafficking defects. In this study, we focused on the crosstalk between neurons and microglia to elucidate the mechanisms underlying extensive microgliosis in the NPC1-affected brain. Microglia in the OB of NPC1 mice strongly expressed CX3C chemokine receptor 1 (Cx3cr1), a specific receptor for the neural chemokine C-X3-C motif ligand 1 (Cx3cl1)...
September 30, 2016: Glia
Satu Tiainen, Sanna Oikari, Markku Tammi, Kirsi Rilla, Kirsi Hämäläinen, Raija Tammi, Veli-Matti Kosma, Päivi Auvinen
PURPOSE: Obesity and oversupply of glucose, e.g., due to nutritional factors may shape the tumor microenvironment favorable for tumor progression. O-GlcNAcylation, a reversible modification of intracellular proteins, influences on several cellular functions and is connected to many diseases including cancer. Glycosaminoglycan hyaluronan (HA) enhances tumor progression and in breast cancer HA accumulation associates strongly with poor outcome. In vitro studies have suggested that O-GlcNAcylation may enhance HA synthesis...
November 2016: Breast Cancer Research and Treatment
N Navali, A Gassemzadeh, L Farzadi, S Abdollahi, M Nouri, K Hamdi, F Mallah, F Jalilvand
STUDY QUESTION: Does the intrauterine administration of hCG immediately after oocyte retrieval in antagonist cycles with ICSI and fresh embryo transfer (ET) influence the implantation rate or chemical and clinical pregnancy rates? SUMMARY ANSWER: The intrauterine administration of hCG after oocyte retrieval increases the implantation rate and chemical and clinical pregnancy rates. WHAT IS KNOWN ALREADY: Over half of IVF/ICSI cycles fail due to implantation failure...
September 28, 2016: Human Reproduction
Nicola Tufton, Lucy Shapiro, Umasuthan Srirangalingam, Polly Richards, Anju Sahdev, Ajith V Kumar, Lorraine McAndrew, Lee Martin, Daniel Berney, John Monson, Shern L Chew, Mona Waterhouse, Maralyn Druce, Márta Korbonits, Karl Metcalfe, William M Drake, Helen L Storr, Scott A Akker
OBJECTIVE: For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers. DESIGN: Review of clinical outcomes of a surveillance regimen in patients identified to have an SDHB gene mutation, based on annual MRI, in a single UK tertiary referral centre. PATIENTS: A total of 92 patients were identified with an SDHB gene mutation...
September 28, 2016: Clinical Endocrinology
Li-Ming Xu, Jing-Zhuang Zhao, Miao Liu, Yong-Sheng Cao, Jia-Sheng Yin, Hong-Bai Liu, Tongyan Lu
Infectious pancreatic necrosis is a significant disease of farmed salmonids in China. In this study, a single chain variable fragment (scFv) antibody library derived from rainbow trout (Oncorhynchus mykiss) and viral protein VP2 of a Chinese infectious pancreatic necrosis virus (IPNV) isolate ChRtm213 were co-expressed by a bacterial display technology. The library was subjected to three rounds of screening by flow cytometry (FCM) to select IPNV specific antibodies. Six antibody clones with different mean fluorescence intensities (MFI) were obtained by picking colonies at random...
November 2016: Journal of Virological Methods
Xi Zoë Zhong, Xue Sun, Qi Cao, Gaofeng Dong, Raphael Schiffmann, Xian-Ping Dong
Efficient lysosomal Ca(2+) release plays an essential role in lysosomal trafficking. We have recently shown that lysosomal big conductance Ca(2+)-activated potassium (BK) channel forms a physical and functional coupling with the lysosomal Ca(2+) release channel Transient Receptor Potential Mucolipin-1 (TRPML1). BK and TRPML1 forms a positive feedback loop to facilitate lysosomal Ca(2+) release and subsequent lysosome membrane trafficking. However, it is unclear whether the positive feedback mechanism is common for other lysosomal storage diseases (LSDs) and whether BK channel agonists rescue abnormal lysosomal storage in LSDs...
September 27, 2016: Scientific Reports
Eva-Maria Kuech, Graham Brogden, Hassan Y Naim
Lysosomal storage disorders are a heterogeneous group of more than 50 distinct inborn metabolic diseases affecting about 1 in 5000 to 7000 live births. The diseases often result from mutations followed by functional deficiencies of enzymes or transporters within the acidic environment of the lysosome, which mediate the degradation of a wide subset of substrates, including glycosphingolipids, glycosaminoglycans, cholesterol, glycogen, oligosaccharides, peptides and glycoproteins, or the export of the respective degradation products from the lysosomes...
September 21, 2016: Biochimie
Mariana Acuña, Víctor Castro-Fernández, Mauricio Latorre, Juan Castro, Edward H Schuchman, Victoria Guixé, Mauricio González, Silvana Zanlungo
Niemann-Pick disease (NPD) type A and B are recessive hereditary disorders caused by deficiency in acid sphingomyelinase (ASM). The p.Ala359Asp mutation has been described in several patients but its functional and structural effects in the protein are unknown. In order to characterize this mutation, we modeled the three-dimensional ASM structure using the recent available crystal of the mammalian ASM as a template. We found that the p.Ala359Asp mutation is localized in the hydrophobic core and far from the sphingomyelin binding site...
October 21, 2016: Biochemical and Biophysical Research Communications
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