keyword
MENU ▼
Read by QxMD icon Read
search

Wilson's disease

keyword
https://www.readbyqxmd.com/read/29676998/an-epigenetic-biomarker-of-aging-for-lifespan-and-healthspan
#1
Morgan E Levine, Ake T Lu, Austin Quach, Brian H Chen, Themistocles L Assimes, Stefania Bandinelli, Lifang Hou, Andrea A Baccarelli, James D Stewart, Yun Li, Eric A Whitsel, James G Wilson, Alex P Reiner, Abraham Aviv, Kurt Lohman, Yongmei Liu, Luigi Ferrucci, Steve Horvath
Identifying reliable biomarkers of aging is a major goal in geroscience. While the first generation of epigenetic biomarkers of aging were developed using chronological age as a surrogate for biological age, we hypothesized that incorporation of composite clinical measures of phenotypic age that capture differences in lifespan and healthspan may identify novel CpGs and facilitate the development of a more powerful epigenetic biomarker of aging. Using an innovative two-step process, we develop a new epigenetic biomarker of aging, DNAm PhenoAge, that strongly outperforms previous measures in regards to predictions for a variety of aging outcomes, including all-cause mortality, cancers, healthspan, physical functioning, and Alzheimer's disease...
April 18, 2018: Aging
https://www.readbyqxmd.com/read/29676235/current-and-promising-therapies-in-autosomal-recessive-ataxias
#2
Vincent Picher-Martel, Nicolas Dupre
BACKGROUND & OBJECTIVE: Ataxia is clinically characterized by unsteady gait and imbalance. Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant, X-linked and autosomal recessive ataxias. Many years have passed since the description of Friedreich's ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have now been described...
April 18, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29675607/medical-and-financial-burden-of-acute-intermittent-porphyria
#3
Rochus A Neeleman, Margreet A E M Wagenmakers, Rita H Koole-Lesuis, G Sophie Mijnhout, J H Paul Wilson, Edith C H Friesema, Janneke G Langendonk
INTRODUCTION: A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers. METHODS: Data from patient records and questionnaires were collected in patients between 1960 and 2016 at the Erasmus Medical Center, Rotterdam, the Netherlands...
April 19, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29675169/bioorthogonal-pro-metabolites-for-profiling-short-chain-fatty-acylation
#4
Wilson R Sinclair, Jonathan H Shrimp, Thomas T Zengeya, Rhushikesh A Kulkarni, Julie M Garlick, Hans Luecke, Andrew J Worth, Ian A Blair, Nathaniel W Snyder, Jordan L Meier
Short chain fatty acids (SCFAs) play a central role in health and disease. One function of these signaling molecules is to serve as precursors for short chain fatty acylation, a class of metabolically-derived posttranslational modifications (PTMs) that are established by lysine acetyltransferases (KATs) and lysine deacetylases (KDACs). Via this mechanism, short chain fatty acylation serves as an integrated reporter of metabolism as well as KAT and KDAC activity, and has the potential to illuminate the role of these processes in disease...
February 7, 2018: Chemical Science
https://www.readbyqxmd.com/read/29674751/characterization-of-the-most-frequent-atp7b-mutation-causing-wilson-disease-in-hepatocytes-from-patient-induced-pluripotent-stem-cells
#5
Silvia Parisi, Elena V Polishchuk, Simona Allocca, Michela Ciano, Anna Musto, Maria Gallo, Lucia Perone, Giusy Ranucci, Raffaele Iorio, Roman S Polishchuk, Stefano Bonatti
H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population. ATP7B localizes to the Golgi complex in hepatocytes but moves in response to copper overload to the endo-lysosomal compartment to support copper excretion via bile canaliculi. In heterologous or hepatoma-derived cell lines, overexpressed ATP7B-H1069Q is strongly retained in the ER and fails to move to the post-Golgi sites, resulting in toxic copper accumulation. However, this pathogenic mechanism has never been tested in patients' hepatocytes, while animal models recapitulating this form of WD are still lacking...
April 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29674426/association-of-polygenic-risk-score-with-the-risk-of-chronic-lymphocytic-leukemia-and-monoclonal-b-cell-lymphocytosis
#6
Geffen Kleinstern, Nicola J Camp, Lynn R Goldin, Celine M Vachon, Claire M Vajdic, Silvia de Sanjose, J Brice Weinberg, Yolanda Benavente, Delphine Casabonne, Mark Liebow, Alexandra Nieters, Henrik Hjalgrim, Mads Melbye, Bengt Glimelius, Hans-Olov Adami, Paolo Boffetta, Paul Brennan, Marc Maynadie, James McKay, Pier Luigi Cocco, Tait D Shanafelt, Timothy G Call, Aaron Norman, Curtis Hanson, Dennis Robinson, Kari G Chaffee, Angela R Brooks-Wilson, Alain Monnereau, Jacqueline Clavel, Martha Glenn, Karen Curtin, Lucia Conde, Paige M Bracci, Lindsay M Morton, Wendy Cozen, Richard K Severson, Stephen J Chanock, John J Spinelli, James B Johnston, Nathaniel Rothman, Christine F Skibola, Jose F Leis, Neil E Kay, Karin E Smedby, Sonja I Berndt, James R Cerhan, Neil Caporaso, Susan L Slager
Inherited loci have been found to be associated with risk of chronic lymphocytic leukemia (CLL). A combined polygenic risk score (PRS) of representative single nucleotide polymorphisms (SNPs) from these loci may improve risk prediction over individual SNPs. Herein, we evaluated the association of a PRS with CLL risk and its precursor, monoclonal B-cell lymphocytosis (MBL). We assessed its validity and discriminative ability in an independent sample and evaluated effect modification and confounding by family history (FH) of hematological cancers...
April 19, 2018: Blood
https://www.readbyqxmd.com/read/29673035/climate-change-and-the-health-of-older-people-in-australia-a-scoping-review-on-the-role-of-mobile-applications-apps-in-ameliorating-impact
#7
REVIEW
Deborah A Black, Kate O'Loughlin, Leigh A Wilson
OBJECTIVES: Due to the impact of climate change, mobile applications (apps) providing information about the external environment have the potential to improve the health of older people. The purpose of this research was to undertake a scoping review of the evidence on the usability, feasibility and effectiveness of mobile apps to encourage access to activities outside the home in older people. METHODS: A search of databases was undertaken with relevant keywords...
April 19, 2018: Australasian Journal on Ageing
https://www.readbyqxmd.com/read/29672678/aberrant-occipital-dynamics-differentiate-hiv-infected-patients-with-and-without-cognitive-impairment
#8
Alex I Wiesman, Jennifer O'Neill, Mackenzie S Mills, Kevin R Robertson, Howard S Fox, Susan Swindells, Tony W Wilson
Combination antiretroviral therapies have revolutionized the treatment of HIV infection, and many patients now enjoy a lifespan equal to that of the general population. However, HIV-associated neurocognitive disorders (HAND) remain a major health concern, with between 30% and 70% of all HIV-infected patients developing cognitive impairments during their life time. One important feature of HAND is visuo-perceptual deficits, but the systems-level neural dynamics underlying these impairments are poorly understood...
April 17, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29669268/frailty-and-cognitive-status-evaluation-can-better-predict-mortality-in-older-adults
#9
Ivan Aprahamian, Claudia Kimie Suemoto, Márlon Juliano Romero Aliberti, Sileno de Queiroz Fortes Filho, Juliana de Araújo Melo, Sumika Mori Lin, Wilson Jacob Filho
OBJECTIVES: to evaluate the improvement in one-year mortality prediction after adding a 2-min cognitive screening to a simple 1-min frailty detection instrument. Secondary outcomes were new activities of daily living (ADL) disability and falls. DESIGN: Prospective cohort study. SETTING: A geriatric day-hospital for intermediate care. PARTICIPANTS: A total of 701 older adults with an acute or decompensated disease (79...
April 11, 2018: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/29668677/bayesian-reconstruction-of-transmission-within-outbreaks-using-genomic-variants
#10
Nicola De Maio, Colin J Worby, Daniel J Wilson, Nicole Stoesser
Pathogen genome sequencing can reveal details of transmission histories and is a powerful tool in the fight against infectious disease. In particular, within-host pathogen genomic variants identified through heterozygous nucleotide base calls are a potential source of information to identify linked cases and infer direction and time of transmission. However, using such data effectively to model disease transmission presents a number of challenges, including differentiating genuine variants from those observed due to sequencing error, as well as the specification of a realistic model for within-host pathogen population dynamics...
April 18, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29668570/value-of-serum-zinc-in-diagnosing-and-assessing-severity-of-liver-disease-in-children-with-wilson-disease
#11
Palittiya Sintusek, Eirini Kyrana, Anil Dhawan
Supplemental Digital Content is available in the textABSTRACT OBJECTIVES:: Wilson disease (WD) is a rare inborn error of copper metabolism with diverse manifestations. There has been no study of zinc (Zn), the copper's antagonist, in WD diagnosis and severity so far. Our aims were to evaluate serum Zn in WD and its correlation with the disease severity score (revised WD index). Although the ATP7B mutation analysis is highly accurate for WD diagnosis, it may not be readily available in a resource-limiting setting...
April 17, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29668327/assessment-of-humoral-innate-and-t-cell-immune-responses-to-adeno-associated-virus-vectors
#12
Roberto Calcedo, Jessica A Chichester, James M Wilson
Adeno-associated virus (AAV)-based gene therapy is being applied to treat a wide array of diseases. Preexisting host immune responses to AAV and immune responses elicited by AAV vector administration remain a problem that needs to be further studied. Here we present a series of protocols to assess immune responses before and after AAV vector administration that are applicable to multiple animal models and phase 1 clinical trials. More specifically, they may be use to evaluate (1) the humoral immune response, through levels of AAV-neutralizing and binding antibodies; (2) the innate immune response, through the acute induction of inflammatory cytokines; and (3) the T-cell immune response, through the activation of transgene- and vector-specific CD8+ and CD4+ T cells...
April 2018: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/29666152/phenylmethimazole-abrogates-diet-induced-inflammation-glucose-intolerance-and-nafld
#13
Ashley Patton, Tyler Church, Caroline Wilson, Jean Thuma, Douglas J Goetz, Darlene E Berryman, Edward O List, Frank L Schwartz, Kelly D McCall
Nonalcoholic fatty liver disease (NAFLD) is the hepatic manifestation of both metabolic and inflammatory diseases and has become the leading chronic liver disease worldwide. High fat (HF) diets promote an increased uptake and storage of free fatty acids (FFAs) and triglycerides (TGs) in hepatocytes, which initiates steatosis and induces lipotoxicity, inflammation, and insulin resistance. Activation and signaling of Toll-like receptor 4 (TLR4) by FFAs induces inflammation evident in NAFLD and insulin resistance...
April 17, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29666090/rare-case-of-chorea-hyperglycaemia-basal-ganglia-c-h-bg-syndrome
#14
Sajjad Ahmad, Priya Mohan Babu, Lavanya Shenbagaraj, Lindsay George
An 83-year-old woman presented with acute-onset haemichorea and haemiballism particularly affecting the left side of the body. She was known to have type 2 diabetes, which was poorly controlled with sitagliptin. She was hyperglycaemic but not ketotic or acidotic. After she was started on insulin and good glycaemic control was achieved, her abnormal movements dramatically improved. MRI of the brain showed a T1-weighted hyperintense lesion on the right basal ganglia, which is typical of chorea-hyperglycaemia-basal ganglia syndrome...
April 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29664874/traumatic-brain-injury-and-infectious-encephalopathy-in-children-from-four-resource-limited-settings-in-africa
#15
Ericka L Fink, Amelie von Saint Andre-von Arnim, Rashmi Kumar, Patrick T Wilson, Tigist Bacha, Abenezer Tirsit Aklilu, Tsegazeab Laeke Teklemariam, Shubhada Hooli, Lisine Tuyisenge, Easmon Otupiri, Anthony Fabio, John Gianakas, Patrick M Kochanek, Derek C Angus, Robert C Tasker
OBJECTIVES: To assess the frequency, interventions, and outcomes of children presenting with traumatic brain injury or infectious encephalopathy in low-resource settings. DESIGN: Prospective study. SETTING: Four hospitals in Sub-Saharan Africa. PATIENTS: Children age 1 day to 17 years old evaluated at the hospital with traumatic brain injury or infectious encephalopathy. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: We evaluated the frequency and outcomes of children presenting consecutively over 4 weeks to any hospital department with traumatic brain injury or infectious encephalopathy...
April 16, 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29663586/adiposity-body-composition-and-ventricular-arterial-stiffness-in-the-elderly-the-atherosclerosis-risk-in-communities-study
#16
Miguel M Fernandes-Silva, Amil M Shah, Brian Claggett, Susan Cheng, Hirofumi Tanaka, Odilson M Silvestre, Wilson Nadruz, Barry A Borlaug, Scott D Solomon
AIM: Weight gain appears to accelerate age-related ventricular-arterial stiffening, which has been implicated in the development of heart failure (HF), but it is unclear whether body fat accumulation underpins this association. We evaluated the relationship of adiposity, using measures of body composition, with ventricular-arterial stiffness among the elderly in the community. METHODS AND RESULTS: Adiposity was accessed through body mass index (BMI), waist circumference, and body fat percentage...
April 16, 2018: European Journal of Heart Failure
https://www.readbyqxmd.com/read/29662615/transcriptome-and-proteome-profiling-reveals-stress-induced-expression-signatures-of-imiquimod-treated-tasmanian-devil-facial-tumor-disease-dftd-cells
#17
Amanda L Patchett, Richard Wilson, Jac C Charlesworth, Lynn M Corcoran, Anthony T Papenfuss, Bruce A Lyons, Gregory M Woods, Cesar Tovar
As a topical cancer immunotherapy, the toll-like receptor 7 ligand imiquimod activates tumor regression via stimulation of immune cell infiltration and cytotoxic responses. Imiquimod also exerts direct pro-apoptotic effects on tumor cells in vitro , but a role for these effects in imiquimod-induced tumor regression remains undefined. We previously demonstrated that cell lines derived from devil facial tumor disease (DFTD), a transmissible cancer threatening the survival of the Tasmanian devil ( Sarcophilus harrisii ), are sensitive to imiquimod-induced apoptosis...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29662245/early-human-cytomegalovirus-reactivation-is-associated-with-lower-incidence-of-relapse-of-myeloproliferative-disorders-after-allogeneic-hematopoietic-stem-cell-transplantation
#18
Zinaida Peric, Jonas Wilson, Nadira Durakovic, Alen Ostojic, Lana Desnica, Violeta Rezo Vranjes, Ivana Marekovic, Ranka Serventi-Seiwerth, Radovan Vrhovac
Conflicting results have been reported regarding the association between early cytomegalovirus (CMV) reactivation and relapse after allogeneic hematopoietic stem cell transplantation (allo-HSCT). This prompted us to evaluate the impact of CMV reactivation on outcomes of 155 consecutive adult patients transplanted in our institution. In our study, CMV reactivation did not affect cumulative incidence (CI) of relapse in patients with lymphoproliferative disorders. However, the CI of relapse in patients with myeloproliferative disorders (AML and MPN) was 37% (95% CI, 21-53) in patients without CMV reactivation as opposed to 17% (95% CI, 9-28) in patients with CMV reactivation (p = 0...
April 16, 2018: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/29662170/c-maf-controls-immune-responses-by-regulating-disease-specific-gene-networks-and-repressing-il-2-in-cd4-t-cells
#19
Leona Gabryšová, Marisol Alvarez-Martinez, Raphaëlle Luisier, Luke S Cox, Jan Sodenkamp, Caroline Hosking, Damián Pérez-Mazliah, Charlotte Whicher, Yashaswini Kannan, Krzysztof Potempa, Xuemei Wu, Leena Bhaw, Hagen Wende, Michael H Sieweke, Greg Elgar, Mark Wilson, James Briscoe, Vicki Metzis, Jean Langhorne, Nicholas M Luscombe, Anne O'Garra
The transcription factor c-Maf induces the anti-inflammatory cytokine IL-10 in CD4+ T cells in vitro. However, the global effects of c-Maf on diverse immune responses in vivo are unknown. Here we found that c-Maf regulated IL-10 production in CD4+ T cells in disease models involving the TH 1 subset of helper T cells (malaria), TH 2 cells (allergy) and TH 17 cells (autoimmunity) in vivo. Although mice with c-Maf deficiency targeted to T cells showed greater pathology in TH 1 and TH 2 responses, TH 17 cell-mediated pathology was reduced in this context, with an accompanying decrease in TH 17 cells and increase in Foxp3+ regulatory T cells...
April 16, 2018: Nature Immunology
https://www.readbyqxmd.com/read/29659479/oral-dysbiotic-communities-and-their-implications-in-systemic-diseases
#20
REVIEW
Preethi Sudhakara, Abishek Gupta, Anshumouli Bhardwaj, Aruni Wilson
The human body supports the growth of a wide array of microbial communities in various niches such as the oral cavity, gastro-intestinal and urogenital tracts, and on the surface of the skin. These host associated microbial communities include yet-un-cultivable bacteria and are influenced by various factors. Together, these communities of bacteria are referred to as the human microbiome. Human oral microbiome consists of both symbionts and pathobionts. Deviation from symbiosis among the bacterial community leads to “dysbiosis”, a state of community disturbance...
April 16, 2018: Dentistry journal
keyword
keyword
11453
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"