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"Wilson's disease"

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https://www.readbyqxmd.com/read/27935710/quantification-of-atp7b-protein-in-dried-blood-spots-by-peptide-immuno-srm-as-a-potential-screen-for-wilson-s-disease
#1
Sunhee Jung, Jeffrey R Whiteaker, Lei Zhao, Han-Wook Yoo, Amanda G Paulovich, Si Houn Hahn
Wilson's Disease (WD), a copper transport disorder caused by a genetic defect in the ATP7B gene, has been a long time strong candidate for newborn screening (NBS), since early interventions can give better results by preventing irreversible neurological disability or liver cirrhosis. Several previous pilot studies measuring ceruloplasmin (CP) in infants or children showed that this marker alone was insufficient to meet the universal screening for WD. WD results from mutations that cause absent or markedly diminished levels of ATP7B...
December 9, 2016: Journal of Proteome Research
https://www.readbyqxmd.com/read/27930723/fourteen-years-of-experience-of-liver-transplantation-for-wilson-s-disease-a-report-on-107-cases-from-shiraz-iran
#2
Kamran B Lankarani, Seyed Ali Malek-Hosseini, Saman Nikeghbalian, Mohsen Dehghani, Mohammad Pourhashemi, Kourosh Kazemi, Parisa Janghorban, Maryam Akbari, Sulmaz Ghahramani, Bijan Eghtesad, Maryam Moini, Abbas Rahmi Jaberi, Alireza Shamsaifar, Siavosh Gholami, Fatemeh Rahmanian, Bita Geramizadeh
BACKGROUND AND AIM: Liver transplantation is a potential cure for liver damage from Wilson's disease but the course of neuropsychiatric manifestations after transplantation remains undetermined. MATERIAL AND METHODS: In this study, data on all patients who'd received a liver transplant for Wilson's disease at the Shiraz Organ Transplantation Center between December 2000 and March 2014 were reviewed and compared to data on a control group who'd received a liver transplant over the same period but due to other causes...
2016: PloS One
https://www.readbyqxmd.com/read/27930511/four-year-follow-up-of-a-wilson-disease-pedigree-complicated-with-epilepsy-and-hypopituitarism-case-report-with-a-literature-review
#3
Qi-Jie Zhang, Liu-Qing Xu, Chong Wang, Wei Hu, Ning Wang, Wan-Jin Chen
RATIONALE: Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. PATIENT CONCERNS: The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27915967/liver-transplant-can-resolve-severe-neuropsychiatric-manifestations-of-wilson-disease-a-case-report
#4
Gregory Walker, Trana Hussaini, Robert Stowe, Silke Cresswell, Eric M Yoshida
Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait...
December 2, 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27914924/the-management-of-childhood-liver-diseases-in-adulthood
#5
REVIEW
D Joshi, N Gupta, M Samyn, M Deheragoda, F Dobbels, M A Heneghan
An increasing number of patients with childhood liver disease survive into adulthood. These young adults are now entering adult services and require ongoing management. Aetiologies can be divided into liver diseases that develop in young adults which present to adult hepatologists i.e. biliary atresia and Alagille syndrome or liver diseases that occur in children/adolescents and adults i.e. autoimmune hepatitis or Wilson's disease .To successfully manage these young adults, a dynamic and responsive transition service is essential...
November 30, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27906525/the-clinical-utility-of-qsm-disease-diagnosis-medical-management-and-surgical-planning
#6
REVIEW
Sarah Eskreis-Winkler, Yan Zhang, Jingwei Zhang, Zhe Liu, Alexey Dimov, Ajay Gupta, Yi Wang
Quantitative susceptibility mapping (QSM) is an MR technique that depicts and quantifies magnetic susceptibility sources. Mapping iron, the dominant susceptibility source in the brain, has many important clinical applications. Herein, we review QSM applications in the diagnosis, medical management, and surgical treatment of disease. To assist in early disease diagnosis, QSM can identify elevated iron levels in the motor cortex of amyotrophic lateral sclerosis patients, in the substantia nigra of Parkinson's disease (PD) patients, in the globus pallidus, putamen, and caudate of Huntington's disease patients, and in the basal ganglia of Wilson's disease patients...
December 1, 2016: NMR in Biomedicine
https://www.readbyqxmd.com/read/27881675/the-intestinal-copper-exporter-cua-1-is-required-for-systemic-copper-homeostasis-in-caenorhabditis-elegans
#7
Haarin Chun, Anuj Kumar Sharma, Jaekwon Lee, Jefferson Chan, Shang Jia, Byung-Eun Kim
Copper (Cu) plays key catalytic and regulatory roles in biochemical processes essential for normal growth, development, and health. Defects in Cu metabolism cause Menkes and Wilson's disease, myeloneuropathy, and cardiovascular disease and are associated with other pathophysiological states. Consequently, it is critical to understand the mechanisms by which organisms control the acquisition, distribution, and utilization of Cu. The intestinal enterocyte is a key regulatory point for Cu absorption into the body, however the mechanisms by which intestinal cells transport Cu to maintain organismal Cu homeostasis are poorly understood...
November 23, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27878136/phenotypic-convergence-of-menkes-and-wilson-disease
#8
Boglarka Bansagi, David Lewis-Smith, Endre Pal, Jennifer Duff, Helen Griffin, Angela Pyle, Juliane S Müller, Gabor Rudas, Zsuzsanna Aranyi, Hanns Lochmüller, Patrick F Chinnery, Rita Horvath
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.(1,2) About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, and developmental delay.(2) The intracellular copper transport is regulated by 2 P type ATPase copper transporters ATP7A and ATP7B...
December 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27869428/-hemolytic-anemia-as-the-first-clinical-presentation-of-wilson-disease-a-pediatric-case
#9
José A Henao C, Kathia Valverde Muñoz, María L Ávila A
: Wilson disease is an autosomal recessive disorder of the copper's hepatic metabolism; it results in toxicity due to accumulation of the mineral. The hemolytic anemia is present in 17% at some point of the disease, although it is a rare initial clinical presentation. CASE REPORT: 11 years old boy who presented with negative Coombs hemolytic anemia and elevation of liver enzymes. The possibility of Wilson disease was considered, which was confirmed with the finding of a Kayser-Fleischer ring in the eye exam...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27866189/liver-transplantation-in-wilson-s-disease-with-neurological-impairment-evaluation-in-4-patients
#10
Chloé Laurencin, Anne Sophie Brunet, Jérôme Dumortier, Laurence Lion-Francois, Stéphane Thobois, Jean Yves Mabrut, Rémi Dubois, France Woimant, Aurélia Poujois, Olivier Guillaud, Alain Lachaux, Emmanuel Broussolle
BACKGROUND: The aim of this work is to report our early experiences about the benefits of liver transplantation (LT) in the treatment of persistent neurological symptoms in Wilson's disease (WD) patients. METHODS: We describe our findings in 4 WD patients with neurological impairment or symptoms treated by LT: 2 patients had transplants due to worsening of neurological symptoms despite long-term appropriate medical treatment. The other 2 required LT because of symptoms associated with liver failure...
November 19, 2016: European Neurology
https://www.readbyqxmd.com/read/27863968/periocular-periorbital-and-orbital-pathology-in-liver-disease
#11
REVIEW
William J Carroll, Travis Peck, Thomas L Jenkins, Zeynel A Karcioglu
Though the connection is not often apparent, hepatic pathology may be associated with ophthalmic disease . We review the literature concerning the periocular, periorbital, and orbital manifestations of various hepatic disorders. This includes periocular/periorbital jaundice, the impact of hepatitis B and C, eyelid changes in cirrhosis, orbital mass lesions in hepatocellular carcinoma, and cutaneous vascular malformations as they are related to liver disease. The motility disorders associated with Wilson's disease, the ophthalmic manifestations of Alagille syndrome, and the effects of liver transplantation are also discussed...
November 15, 2016: Survey of Ophthalmology
https://www.readbyqxmd.com/read/27855617/eryptosis-ally-or-enemy
#12
Marilena Briglia, Maria Antonia Rossi, Caterina Faggio
Prior to senescence, erythrocytes may, experience injury which compromises their integrity and thus triggers suicidal erythrocyte death or eryptosis. This mechanism is characterised by cell shrinkage, cell membrane blebbing, and cell membrane phospholipid scrambling after phosphatidylserine exposure on the cell surface that is identified by macrophages which engulf and degrade the eryptotic cells. The term eryptosis also includes typical mechanisms, which contribute to the triggering of this process. Among them: oxidative stress, Ca2+ entry with an increase in cytosolic Ca2+ activity ([Ca ]i) and the activation of p38 kinase, which is a kinase expressed in human erythrocytes and activated after hyperosmotic shock...
November 18, 2016: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/27831460/coexisting-parkinson-s-and-wilson-s-disease-chance-or-connection
#13
Carmen Gasca-Salas, Angel Alonso, Rafael González-Redondo, José A Obeso
No abstract text is available yet for this article.
November 10, 2016: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/27830552/demonstrating-potential-of-cell-therapy-for-wilson-s-disease-with-the-long-evans-cinnamon-rat-model
#14
Fadi Luc Jaber, Yogeshwar Sharma, Sanjeev Gupta
Wilson's disease (WD) is characterized by the inability to excrete copper (Cu) from the body with progressive tissue injury, especially in liver and brain. The molecular defect in WD concerns mutations in ATP7B gene leading to loss of Cu transport from the hepatocyte to the bile canaliculus. While drugs, e.g., Cu chelators, have been available for several decades, these must be taken lifelong, which can be difficult due to issues of compliance or side effects. Many individuals may require liver transplantation, which can also be difficult due to donor organ shortages...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27795312/an-aminotransferase-is-responsible-for-the-deamination-of-the-n-terminal-leucine-and-required-for-formation-of-oxazolone-ring-a-in-methanobactin-of-methylosinus-trichosporium-ob3b
#15
Wenyu Gu, Bipin S Baral, Alan A DiSpirito, Jeremy D Semrau
: Gene expression in methanotrophs has been shown to be affected by the availability of a variety of metals, most notably copper regulating expression of alternative forms of methane monooxygenase. A copper-binding compound or chalkophore called methanobactin plays a key role in copper uptake in methanotrophs. Methanobactin is a ribosomally synthesized and post-translationally modified peptide (RiPP) with two heterocyclic rings with an associated thioamide for each ring, formed from X-Cys dipeptide sequences that bind copper...
October 21, 2016: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/27773187/diagnosis-of-wilson-s-disease-a-20-year-audit
#16
Geetha Rathnayake, Mirette Saad, Kay Weng Choy, James C G Doery
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27772931/inborn-error-of-manganese-metabolism-the-new-wilson-s-disease
#17
Robert McQuilty, Tina Yen
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27759555/effect-of-copper-staining-in-wilson-disease-a-liver-explant-study
#18
Nese Karadag, Kerem Tolan, Emine Samdanci, Ayse Selimoglu, Nusret Akpolat, Sezai Yilmaz
OBJECTIVES: Wilson disease is a rare genetic disease with clinical and histopathologic differential diagnostic challenges. In this study, we evaluated the histopathologic findings of explanted livers in Wilson disease, with special emphasis on copper histochemistry. MATERIALS AND METHODS: Our study group was recruited by reviewing archived histopathology reports and the liver transplant clinic patient records retrospectively for patients who had liver transplant for Wilson disease between January 2010 and June 2015, at Turgut Ozal Medical Center...
October 14, 2016: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/27744583/disease-causing-point-mutations-in-metal-binding-domains-of-wilson-disease-protein-decrease-stability-and-increase-structural-dynamics
#19
Ranjeet Kumar, Candan Ariöz, Yaozong Li, Niklas Bosaeus, Sandra Rocha, Pernilla Wittung-Stafshede
After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disease protein (ATP7B) for incorporation into Cu-dependent enzymes in the secretory pathway. Human ATP7B is a large multi-domain membrane-spanning protein which, in contrast to homologues in other organisms, has six similar cytoplasmic metal-binding domains (MBDs). The reason for multiple MBDs is proposed to be indirect modulation of enzymatic activity and it is thus intriguing that point mutations in MBDs can promote Wilson disease...
October 15, 2016: Biometals: An International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine
https://www.readbyqxmd.com/read/27743981/a-microbial-peptide-to-rescue-severe-and-fulminant-wilson-disease
#20
Serge Erlinger
Wilson disease is characterized by massive copper overload caused by a mutation of the liver-specific copper-transporting ATPase, ATP7B. Presently, liver transplantation is the only treatment available to patients with advanced or acute liver disease. In this paper, the authors describe the therapeutic effect of methanobactin, a potent bacterial copper-binding protein, in a rat model of Wilson disease, the Atp7b(-/-) rat. Their results show a marked improvement of clinical, biochemical and ultrastructural abnormalities...
December 2016: Clinics and Research in Hepatology and Gastroenterology
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