keyword
MENU ▼
Read by QxMD icon Read
search

Pick's Disease

keyword
https://www.readbyqxmd.com/read/28526889/the-contribution-of-an-asthma-diagnostic-consultation-service-in-obtaining-an-accurate-asthma-diagnosis-for-primary-care-patients-results-of-a-real-life-study
#1
R M E Gillis, W van Litsenburg, R H van Balkom, J W Muris, F W Smeenk
Previous studies showed that general practitioners have problems in diagnosing asthma accurately, resulting in both under and overdiagnosis. To support general practitioners in their diagnostic process, an asthma diagnostic consultation service was set up. We evaluated the performance of this asthma diagnostic consultation service by analysing the (dis)concordance between the general practitioners working hypotheses and the asthma diagnostic consultation service diagnoses and possible consequences this had on the patients' pharmacotherapy...
May 19, 2017: NPJ Primary Care Respiratory Medicine
https://www.readbyqxmd.com/read/28511395/clinical-and-cytological-spectrum-of-granulomatous-mastitis-and-utility-of-fnac-in-picking-up-tubercular-mastitis-an-eight-year-study
#2
Divya Achutha Ail, Pallavi Bhayekar, Avinash Joshi, Nidhi Pandya, Anuja Nasare, Pranoti Lengare, Ketan Ashok Narkhede
INTRODUCTION: Granulomatous Mastitis (GM) is a rare, benign, inflammatory disease of the breast. It is a well known mimicker of malignancy, clinically and radiologically. Patients are often subjected to number of tests for the right diagnosis. Non-specific Granulomatous Mastitis (NGM) and Tubercular Mastitis (TBM) are chief among the various causes of GM. They are important to be diagnosed early as their treatment varies significantly. Fine Needle Aspiration Cytology (FNAC) is simple, patient friendly and primary investigation modality in cases of lump in breast...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28496418/toward-the-identification-of-a-specific-psychopathology-of-substance-use-disorders
#3
REVIEW
Angelo G I Maremmani, Pier Paolo Pani, Luca Rovai, Silvia Bacciardi, Icro Maremmani
Addiction is a mental illness in which psychiatric conditions imply a prominent burden. Psychopathological symptoms in substance use disorder (SUD) patients are usually viewed as being assignable to the sphere of a personality trait or of comorbidity, leaving doubts about the presence of a specific psychopathology that could only be related to the toxicomanic process. Our research group at the University of Pisa has shed light on the possible definition of a specific psychopathological dimension in SUDs. In heroin use disorder patients, performing an exploratory principal component factor analysis (PCA) on all the 90 items included in the SCL-90 questionnaire led to a five-factor solution...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/28486594/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
Apathy and impulsivity are common and disabling consequences of frontotemporal lobar degeneration. They cause substantial carer distress, but their aetiology remains elusive. There are critical limitations to previous studies in this area including (i) the assessment of either apathy or impulsivity alone, despite their frequent co-existence; (ii) the assessment of behavioural changes within single diagnostic groups; and (iii) the use of limited sets of tasks or questions that relate to just one aspect of these multifactorial constructs...
May 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28482387/-the-limitation-of-transthoracic-echocardiography-in-diagnosing-partial-anomalous-pulmonary-venous-drainage
#5
J Zhang, Y Gao, J L Yang, W D Chen, G Y Huang, X J Ma
Objective: To improve the diagnostic accuracy of transthoracic echocardiography (TTE) by analyzing its limitations in diagnosing partial anomalous pulmonary venous drainage (PAPVD). Method: This was a retrospective analysis of PAPVD patients seen at the Children's Hospital of Fudan University from October 1 2006 to October 1 2016. The echocardiographic data were compared to findings on multi-slice spiral CT (MSCT), cardiac catheterization or surgery. The echocardiography machines used were Philip IE33, GE Vivid 7 and Vivid i with frequency ranging from 5...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28477283/linking-mitochondrial-dysfunction-to-neurodegeneration-in-lysosomal-storage-diseases
#6
REVIEW
Afshin Saffari, Stefan Kölker, Georg F Hoffmann, Darius Ebrahimi-Fakhari
Lysosomal storage diseases (LSD) are inborn errors of metabolism resulting in multisystem disease. Central nervous system involvement, often with progressive neurodegeneration, accounts for a large portion of the morbidity and mortality seen in many LSD. Available treatments fail to prevent or correct neurologic symptoms and decline. Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. Mitochondrial dysfunction in LSD is characterized by alterations in mitochondrial mass, morphology and function...
May 5, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28472993/humanized-monoclonal-antibody-armanezumab-specific-to-n-terminus-of-pathological-tau-characterization-and-therapeutic-potency
#7
Michael G Agadjanyan, Karen Zagorski, Irina Petrushina, Hayk Davtyan, Konstantin Kazarian, Maxim Antonenko, Joy Davis, Charles Bon, Mathew Blurton-Jones, David H Cribbs, Anahit Ghochikyan
BACKGROUND: The experience from clinical trials indicates that anti-Aβ immunotherapy could be effective in early/pre-clinical stages of AD, whereas at the late stages promoting the clearing of Aβ alone may be insufficient to halt the disease progression. At the same time, pathological tau correlates much better with the degree of dementia than Aβ deposition. Therefore, targeting pathological tau may provide a more promising approach for the treatment of advanced stages of AD. Recent data demonstrates that the N-terminal region of tau spanning aa 2-18 termed "phosphatase activation domain" that is normally hidden in the native protein in 'paperclip'-like conformation, becomes exposed in pathological tau and plays an essential role in the inhibition of fast axonal transport and in aggregation of tau...
May 5, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28472934/novel-npc1-mutations-with-different-segregation-in-two-related-greek-patients-with-niemann-pick-type-c-disease-molecular-study-in-the-extended-pedigree-and-clinical-correlations
#8
Evangelia Bountouvi, Anna Papadopoulou, Marie T Vanier, Georgia Nyktari, Spyridon Kanellakis, Helen Michelakakis, Argyrios Dinopoulos
BACKGROUND: Niemann-Pick type C disease (NPC) is an autosomal recessive, neurovisceral, lysosomal storage disorder with protean and progressive clinical manifestations, resulting from mutations in either of the two genes, NPC1 (~95% of families) and NPC2. Contrary to other populations, published evidence regarding NPC disease in Greece is sparse. METHODS: The study population consisted of two Greek NPC patients and their extended pedigree. Patients' clinical, biochemical, molecular profiles and the possible correlations are presented...
May 4, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28465104/phenanthridin-6-one-derivatives-as-the-first-class-of-non-steroidal-pharmacological-chaperones-for-niemann-pick-disease-type-c1-protein
#9
Hiromitsu Fukuda, Fumika Karaki, Kosuke Dodo, Tomomi Noguchi-Yachide, Minoru Ishikawa, Yuichi Hashimoto, Kenji Ohgane
Niemann-Pick disease type C is a fatal, progressive neurodegenerative disease mostly caused by mutations in Nieamnn-Pick type C1 (NPC1), a late endosomal membrane protein that is essential for intracellular cholesterol transport. The most prevalent mutation, I1061T (Ile to Thr), interferes with the protein folding process. Consequently, mutated but intrinsically functional NPC1 proteins are prematurely degraded via proteasome, leading to loss of NPC1 function. Previously, we reported sterol derivatives as pharmacological chaperones for NPC1, and showed that these derivatives can normalize folding-defective phenotypes of I1061T NPC1 mutant by directly binding to, and stabilizing, the protein...
April 22, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28460750/cross-sectional-study-of-the-prevalence-of-and-risk-factors-for-hoof-disorders-in-horses-in-the-netherlands
#10
M Holzhauer, R Bremer, I Santman-Berends, O Smink, I Janssens, W Back
Information is scarce on the prevalence of hoof disorders in horses. In this study, we examined the prevalence of and risk factors for hoof disorders in a population of horses in The Netherlands. In a group of 942 randomly selected horses, hoof health was scored during regular foot trimming (one horse/farm). Hooves were assessed for the occurrence of one of 12 hoof disorders by a group of 21 certified farriers in two periods i.e. winter and summer of 2015. The mean age of the group of horses was 11.2±5.6years...
May 1, 2017: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#11
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28456978/quantitative-co-localization-and-pattern-analysis-of-endo-lysosomal-cargo-in-subcellular-image-cytometry-and-validation-on-synthetic-image-sets
#12
Frederik W Lund, Daniel Wüstner
Late endosomes and lysosomes (LE/LYSs) play a central role in trafficking of endocytic cargo, secretion of exosomes, and hydrolysis of ingested proteins and lipids. Failure in such processes can lead to lysosomal storage disorders in which a particular metabolite accumulates within LE/LYSs. Analysis of endocytic trafficking relies heavily on quantitative fluorescence microscopy, but evaluation of the huge image data sets is challenging and demands computer-assisted statistical tools. Here, we describe how to use SpatTrack ( www...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28452365/pluronic-based-%C3%AE-cyclodextrin-polyrotaxanes-for-treatment-of-niemann-pick-type-c-disease
#13
Christopher J Collins, Bradley P Loren, Md Suhail Alam, Yawo Mondjinou, Joseph L Skulsky, Cheyenne R Chaplain, Kasturi Haldar, David H Thompson
Niemann-Pick Type C disease (NPC) is a rare metabolic disorder characterized by disruption of normal cholesterol trafficking within the cells of the body. There are no FDA approved treatments available for NPC patients. Recently, the cycloheptaglucoside 2-hydroxypropyl-β-cyclodextrin (HP-β-CD) has shown efficacy as a potential NPC therapeutic by extending lifetime in NPC mice, delaying neurodegeneration, and decreasing visceral and neurological cholesterol burden. Although promising, systemic HP-β-CD treatment is limited by a pharmacokinetic profile characterized by rapid loss through renal filtration...
April 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28450497/integrating-3-omics-data-analyze-rat-lung-tissue-of-copd-states-and-medical-intervention-by-delineation-of-molecular-and-pathway-alterations
#14
Jiansheng Li, Peng Zhao, Liping Yang, Ya Li, Yange Tian, Suyun Li
Chronic obstructive pulmonary disease (COPD) is a serious health problem. However, molecular pathogenesis of COPD remains unknown. Here, we explored the molecular effects of cigarette smoke and bacterial infection in lung tissues of COPD rats. We also investigated therapeutic effects of aminophylline (APL) on the COPD rats, and integrated transcriptome, proteome, and metabolome data for a global view of molecular mechanisms of COPD progression. Using molecular function and pathway analyses, the genes and proteins regulated in COPD and APL-treated rats were mainly attributed to oxidoreductase, antioxidant activity, energy and fatty acid metabolism...
April 27, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28421028/adult-onset-niemann-pick-disease-type-c-rapid-treatment-initiation-advised-but-early-diagnosis-remains-difficult
#15
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
#16
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
#17
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
#18
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...
June 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28410828/early-onset-symptomatic-neuropathy-in-a-child-with-type-1-diabetes-mellitus
#19
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
#20
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 iPSC colonies of the patient from peripheral blood mononuclear cells (PBMNCs), which was the first time for generating hemophilia-specific iPSCs from PBMNCs...
March 22, 2017: Stem Cells and Development
keyword
keyword
48459
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"