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Pick's Disease

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https://www.readbyqxmd.com/read/28421028/adult-onset-niemann-pick-disease-type-c-rapid-treatment-initiation-advised-but-early-diagnosis-remains-difficult
#1
Tobias Piroth, Kai Boelmans, Florian Amtage, Michel Rijntjes, Anna Wierciochin, Thomas Musacchio, Cornelius Weiller, Jens Volkmann, Stephan Klebe
Niemann-Pick type C disease (NP-C) presents with heterogeneous neurological and psychiatric symptoms. Adult onset is rare and possibly underdiagnosed due to frequent lack of specific and obvious key symptoms. For both early and adolescent/adult onset, the available data from studies and case reports describe a positive effect of Miglustat (symptom relief or stabilization). However, due to the low frequency of NP-C, experience with this therapy is still limited. We describe two adult-onset cases of NP-C. In both cases, vertical supranuclear gaze palsy was not recognized at symptom onset...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28414792/characterization-of-hydroxypropyl-beta-cyclodextrins-used-in-the-treatment-of-niemann-pick-disease-type-c1
#2
Alfred L Yergey, Paul S Blank, Stephanie M Cologna, Peter S Backlund, Forbes D Porter, Allan J Darling
2-Hydroxypropyl-beta-cyclodextrin (HPβCD) has gained recent attention as a potential therapeutic intervention in the treatment of the rare autosomal-recessive, neurodegenerative lysosomal storage disorder Niemann-Pick Disease Type C1 (NPC1). Notably, HPβCD formulations are not comprised of a single molecular species, but instead are complex mixtures of species with differing degrees of hydroxypropylation of the cyclodextrin ring. The degree of substitution is a critical aspect of the complex mixture as it influences binding to other molecules and thus could potentially modulate biological effects...
2017: PloS One
https://www.readbyqxmd.com/read/28413817/dataset-in-support-of-the-generation-of-niemann-pick-disease-type-c1-patient-specific-ips-cell-lines-carrying-the-novel-npc1-mutation-c-1180t-c-or-the-prevalent-c-3182t-c-mutation-analysis-of-pluripotency-and-neuronal-differentiation
#3
Franziska Peter, Michaela Trilck, Michael Rabenstein, Arndt Rolfs, Moritz J Frech
Data presented in this article demonstrate the generation and characterization of two novel Niemann-Pick disease Type C1 (NPC1) patient-specific induced pluripotent stem cell (iPSC) lines, related to the research article Trilck et al. (Diversity of Glycosphingolipid GM2 and Cholesterol Accumulation in NPC1 Patient-Specific iPSC-Derived Neurons; Brain Res.; 2017; 1657:52-61. doi: 10.1016/j.brainres.2016.11.031). For reprogramming fibroblasts, carrying the novel homozygous mutation c.1180T>C and the prevalent homozygous mutation c...
June 2017: Data in Brief
https://www.readbyqxmd.com/read/28413156/exposure-of-the-amino-terminus-of-tau-is-a-pathological-event-in-multiple-tauopathies
#4
Benjamin Combs, Nicholas M Kanaan
Pathological changes to the tau protein, including conformational changes and aggregation, are major hallmarks of a group of neurodegenerative disorders known as tauopathies. Among the conformational changes are alterations involving the extreme amino terminus of the protein, known as the phosphatase-activating domain (PAD). Aberrant PAD exposure induces a signaling cascade that leads to disruption of axonal transport, a critical function for neuronal survival. Conformational display of PAD is an early marker of pathological tau in Alzheimer disease (AD), but its role in other tauopathies has yet to be firmly established...
April 13, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28410828/early-onset-symptomatic-neuropathy-in-a-child-with-type-1-diabetes-mellitus
#5
Obeid Mohammad Shafi, Muzamil Latief
Diabetic neuropathy (DN) is a major complication of Type 1 Diabetes Mellitus (T1DM). It is usually subclinical in childhood, but can cause significant impairment with its progression through to adulthood. Current guidelines vary in their recommendation regarding screening for DN in children with T1DM, with some advocating starting screening 5 years after the diagnosis of T1DM. Clinical assessment comprising of history and neurological examination is the most commonly used method for screening, though Nerve Conduction Studies (NCS) provide better sensitivity in picking up early subclinical diabetic neuropathy...
April 5, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28401797/the-state-of-skewed-x-chromosome-inactivation-is-retained-in-the-induced-pluripotent-stem-cells-from-a-female-with-hemophilia-b
#6
Cuicui Lyu, Jun Shen, Jianping Zhang, Feng Xue, Xiaofan Liu, Wei Liu, Rongfeng Fu, Liyan Zhang, Huiyuan Li, Donglei Zhang, Xiaobing Zhang, Tao Cheng, Renchi Yang, Lei Zhang
Skewed X chromosome inactivation (XCI) is a rare reason for hemophilia B in females. It is indefinite whether X chromosome reactivation (XCR) would occur when cells of hemophilia B patients with skewed XCI were reprogrammed into induced pluripotent stem cells (iPSCs). In this study, we investigated a female hemophilia B patient with a known F9 gene mutation: c.676C>T, p.Arg226Trp. We demonstrated that skewed XCI was the pathogenesis of the patient, and we successfully generated numerous iPSCs colonies of the patient from PBMNCs, which was the first time for generating hemophilia-specific iPSCs from PBMNCs...
April 12, 2017: Stem Cells and Development
https://www.readbyqxmd.com/read/28400970/niemann-pick-type-c-disease-the-tip-of-the-iceberg-a-review-of-neuropsychiatric-presentation-diagnosis-and-treatment
#7
REVIEW
William R H Evans, Chris J Hendriksz
Niemann-Pick type C (NP-C) disease is a rare neurodegenerative lysosomal storage disorder. It is highly heterogeneous, and there is limited awareness of a substantial subgroup that has an attenuated adolescent/adult-onset disease. In these patients psychiatric features, often a psychosis, may dominate the initial impression, although often there is an associated ataxia and cognitive impairment. Typically, patients experience a substantial diagnostic delay. In this review we highlight the importance of early recognition and discuss the pathophysiology, neuropsychiatric presentation and recent changes in the investigation and work-up of these patients, and treatment options...
April 2017: BJPsych Bulletin
https://www.readbyqxmd.com/read/28387450/severe-demyelination-in-a-patient-with-a-late-infantile-form-of-niemann-pick-disease-type-c
#8
Tsuyoshi Kodachi, Shizuko Matsumoto, Masashi Mizuguchi, Hitoshi Osaka, Nobuyuki Kanai, Eiji Nanba, Kousaku Ohno, Takanori Yamagata
Niemann-Pick disease type C (NPC) is a cholesterol storage disease caused by defective cellular cholesterol transportation. The onset and progression of NPC are variable, and autopsy findings have mainly been reported for the adult and juvenile forms of this disease. Here we report the clinical and pathological findings from a 9-year-old female patient with the late infantile form of NPC due to NPC1 gene mutation. She had notable splenomegaly at 4 months of age. She lost the ability to speak at 18 months of age...
April 7, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28384320/direct-administration-of-2-hydroxypropyl-beta-cyclodextrin-into-guinea-pig-cochleae-effects-on-physiological-and-histological-measurements
#9
J T Lichtenhan, K Hirose, C A Buchman, R K Duncan, A N Salt
2-Hydroxypropyl-Beta-Cyclodextrin (HPβCD) can be used to treat Niemann-Pick type C disease, Alzheimer's disease, and atherosclerosis. But, a consequence is that HPβCD can cause hearing loss. HPβCD was recently found to be toxic to outer hair cells (OHCs) in the organ of Corti. Previous studies on the chronic effects of in vivo HPβCD toxicity did not know the intra-cochlear concentration of HPβCD and attributed variable effects on OHCs to indirect drug delivery to the cochlea. We studied the acute effects of known HPβCD concentrations administered directly into intact guinea pig cochleae...
2017: PloS One
https://www.readbyqxmd.com/read/28383485/increased-regenerative-capacity-of-the-olfactory-epithelium-in-niemann-pick-disease-type-c1
#10
Anja Meyer, Andreas Wree, René Günther, Carsten Holzmann, Oliver Schmitt, Arndt Rolfs, Martin Witt
Niemann-Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive neurodegeneration. Since olfactory impairment is one of the earliest symptoms in many neurodegenerative disorders, we focused on alterations of the olfactory epithelium in an NPC1 mouse model. Previous findings revealed severe morphological and immunohistochemical alterations in the olfactory system of NPC1(-/-) mutant mice compared with healthy controls (NPC1(+/+))...
April 6, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28379564/shortened-primary-cilium-length-and-dysregulated-sonic-hedgehog-signaling-in-niemann-pick-c1-disease
#11
Sonia Canterini, Jessica Dragotto, Andrea Dardis, Stefania Zampieri, Maria Egle De Stefano, Franco Mangia, Robert P Erickson, Maria Teresa Fiorenza
The Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage disorder due to mutations in the NPC1 gene, encoding a transmembrane protein related to the Sonic hedgehog receptor, Patched, and involved in intracellular trafficking of cholesterol. We have recently found that the proliferation of cerebellar granule neuron precursors is significantly reduced in Npc1-/- mice due to the downregulation of Shh expression. This finding prompted us to analyze the formation of the primary cilium, a non-motile organelle that is specialized for Shh signal transduction and responsible, when defective, for several human genetic disorders...
April 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28378853/serum-metabolomic-profiling-highlights-pathways-associated-with-liver-fat-content-in-a-general-population-sample
#12
M Koch, S Freitag-Wolf, S Schlesinger, J Borggrefe, J R Hov, M K Jensen, J Pick, M R P Markus, T Höpfner, G Jacobs, S Siegert, A Artati, G Kastenmüller, W Römisch-Margl, J Adamski, T Illig, M Nothnagel, T H Karlsen, S Schreiber, A Franke, M Krawczak, U Nöthlings, W Lieb
BACKGROUND/OBJECTIVES: Fatty liver disease (FLD) is an important intermediate trait along the cardiometabolic disease spectrum and strongly associates with type 2 diabetes. Knowledge of biological pathways implicated in FLD is limited. An untargeted metabolomic approach might unravel novel pathways related to FLD. SUBJECTS/METHODS: In a population-based sample (n=555) from Northern Germany, liver fat content was quantified as liver signal intensity using magnetic resonance imaging...
April 5, 2017: European Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/28376709/using-structural-knowledge-in-the-protein-data-bank-to-inform-the-search-for-potential-host-microbe-protein-interactions-in-sequence-space-application-to-mycobacterium-tuberculosis
#13
Gaurang Mahajan, Shekhar C Mande
BACKGROUND: A comprehensive map of the human-M. tuberculosis (MTB) protein interactome would help fill the gaps in our understanding of the disease, and computational prediction can aid and complement experimental studies towards this end. Several sequence-based in silico approaches tap the existing data on experimentally validated protein-protein interactions (PPIs); these PPIs serve as templates from which novel interactions between pathogen and host are inferred. Such comparative approaches typically make use of local sequence alignment, which, in the absence of structural details about the interfaces mediating the template interactions, could lead to incorrect inferences, particularly when multi-domain proteins are involved...
April 4, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28370398/tau-aggregates-where-when-why-and-what-consequences
#14
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
April 2, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28370167/tau-aggregates-where-when-why-and-what-consequences
#15
EDITORIAL
Matthew P Frosch
Neuropathologists have been aware of neurofibrillary tangles for more than a century following their description as part of Alois Alzheimer's initial report. Since those early days, our understanding of the relationship of this particular type of cellular inclusion associated with neurodegeneration has continually broadened. Textbooks, now a partially antiquated concept, commonly list a range of disorders as being associated with tangles -NDASH- including typical neurodegenerative diseases (Alzheimer disease [AD], forms of frontotemporal lobar degenerations [FTLD-tau], progressive supranuclear palsy [PSP], corticobasal degeneration [CBD], primary aged related tauopathy [PART]), secondary degenerative diseases such as chronic traumatic encephalopathy, metabolic disease (Niemann-Pick disease type C) and infections (SSPE)...
March 30, 2017: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/28367337/premature-ventricular-complex-causing-ice-pick-headache
#16
Selcuk Ozturk, Ertan Yetkin
Ice pick headache is a momentary, transient, repetitive headache disorder and manifests with the stabbing pains and jolts. The exact mechanism causing this disease is unknown. Premature ventricular contractions are early depolarization of the ventricular myocardium and in the absence of a structural heart disease, it is considered to be a benign disease. In this report, we describe a male patient presenting with the symptom of momentary headache attacks accompanied with instant chest pain which is associated with premature ventricular contraction...
2017: Case Reports in Cardiology
https://www.readbyqxmd.com/read/28359252/early-urinary-biomarkers-of-diabetic-nephropathy-in-type-1-diabetes-mellitus-show-involvement-of-kallikrein-kinin-system
#17
Lenka Vitova, Zdenek Tuma, Jiri Moravec, Milan Kvapil, Martin Matejovic, Jan Mares
BACKGROUND: Additional urinary biomarkers for diabetic nephropathy (DN) are needed, providing early and reliable diagnosis and new insights into its mechanisms. Rigorous selection criteria and homogeneous study population may improve reproducibility of the proteomic approach. METHODS: Long-term type 1 diabetes patients without metabolic comorbidities were included, 11 with sustained microalbuminuria (MA) and 14 without MA (nMA). Morning urine proteins were precipitated and resolved by 2D electrophoresis...
March 30, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28358902/screening-for-ampa-receptor-auxiliary-subunit-specific-modulators
#18
Caleigh M Azumaya, Emily L Days, Paige N Vinson, Shaun Stauffer, Gary Sulikowski, C David Weaver, Terunaga Nakagawa
AMPA receptors (AMPAR) are ligand gated ion channels critical for synaptic transmission and plasticity. Their dysfunction is implicated in a variety of psychiatric and neurological diseases ranging from major depressive disorder to amyotrophic lateral sclerosis. Attempting to potentiate or depress AMPAR activity is an inherently difficult balancing act between effective treatments and debilitating side effects. A newly explored strategy to target subsets of AMPARs in the central nervous system is to identify compounds that affect specific AMPAR-auxiliary subunit complexes...
2017: PloS One
https://www.readbyqxmd.com/read/28349644/changes-to-cholesterol-trafficking-in-macrophages-by-leishmania-parasites-infection
#19
Geo Semini, Daniel Paape, Athina Paterou, Juliane Schroeder, Martin Barrios-Llerena, Toni Aebischer
Leishmania spp. are protozoan parasites that are transmitted by sandfly vectors during blood sucking to vertebrate hosts and cause a spectrum of diseases called leishmaniases. It has been demonstrated that host cholesterol plays an important role during Leishmania infection. Nevertheless, little is known about the intracellular distribution of this lipid early after internalization of the parasite. Here, pulse-chase experiments with radiolabeled cholesteryl esterified to fatty acids bound to low-density lipoproteins indicated that retention of this source of cholesterol is increased in parasite-containing subcellular fractions, while uptake is unaffected...
March 27, 2017: MicrobiologyOpen
https://www.readbyqxmd.com/read/28337429/investigating-cardiac-motion-patterns-using-synthetic-high-resolution-3d-cardiovascular-magnetic-resonance-images-and-statistical-shape-analysis
#20
Benedetta Biffi, Jan L Bruse, Maria A Zuluaga, Hopewell N Ntsinjana, Andrew M Taylor, Silvia Schievano
Diagnosis of ventricular dysfunction in congenital heart disease is more and more based on medical imaging, which allows investigation of abnormal cardiac morphology and correlated abnormal function. Although analysis of 2D images represents the clinical standard, novel tools performing automatic processing of 3D images are becoming available, providing more detailed and comprehensive information than simple 2D morphometry. Among these, statistical shape analysis (SSA) allows a consistent and quantitative description of a population of complex shapes, as a way to detect novel biomarkers, ultimately improving diagnosis and pathology understanding...
2017: Frontiers in Pediatrics
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