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"Wilson's disease"

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https://www.readbyqxmd.com/read/28099566/wilson-s-disease-the-60th-anniversary-of-walshe-s-article-on-treatment-with-penicillamine
#1
Hélio A G Teive, Egberto Reis Barbosa, Andrew J Lees
This historical review describes Professor Walshe's seminal contribution to the treatment of Wilson's disease on the 60th anniversary of his pioneering article on penicillamine, the first effective treatment for the condition.
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28097080/immunoglobulin-m-nephropathy-in-a-patient-with-wilson-s-disease
#2
Zain Ul Abideen, Zoya Sajjad, Asna Haroon Khan, Nadira Mamoon, Muhammad Bilal, Khaja Hameeduddin Mujtaba Quadri
Immunoglobulin M nephropathy (IgMN) is characterized by the deposition of immunoglobulin M in a dominant distribution in the renal glomeruli. Primary immunoglobulin M nephropathy is diagnosed after consistent light microscopy (LM), immunofluorescence (IF), electron microscopy (EM) results, and exclusion of known systemic disorders causing immunoglobulin M deposition in the glomeruli. The secondary disease has been reported with a few conditions though it has never been reported with any primary disease of the liver...
December 13, 2016: Curēus
https://www.readbyqxmd.com/read/28060027/advantages-of-anterior-segment-optical-coherence-tomography-evaluation-of-the-kayser-fleischer-ring-in-wilson-disease
#3
Mittanamalli S Sridhar
PURPOSE: To present anterior segment optical coherence tomography (AS-OCT) findings of the Kayser-Fleischer (KF) ring in Wilson disease (WD) and to discuss the potential advantages of evaluating the KF ring by AS-OCT. METHODS: This is a retrospective case series of 7 patients with WD with KF rings seen in our institute during the study period (August 2015 to June 2016). All patients underwent slit-lamp examination of the cornea and AS-OCT (Optovue RTVue Premier)...
January 4, 2017: Cornea
https://www.readbyqxmd.com/read/27996315/unusual-psychotic-presentation-after-discontinuation-of-treatment-in-a-patient-with-wilson-s-disease-a-case-report
#4
Andreas S Lappas, Fiesal Jan
Psychiatric manifestations are common in patients with Wilson's Disease(WD), and they are usually correlated with neurological symptoms. However, psychotic presentation without neurological symptoms has rarely been reported. We present a case of WD involving a 34-year-old gentleman who was diagnosed at the age of 22, but due to lack of medication for approximately 5 months was admitted in a psychiatric ward with delusional thoughts of grandeur and persecution, echopraxia and echolalia. No neurological impairment, ophthalmic manifestations or liver abnormalities were identified...
December 20, 2016: Clinical Schizophrenia & related Psychoses
https://www.readbyqxmd.com/read/27995906/acg-clinical-guideline-evaluation-of-abnormal-liver-chemistries
#5
Paul Y Kwo, Stanley M Cohen, Joseph K Lim
Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests should be termed liver chemistries or liver tests. Hepatocellular injury is defined as disproportionate elevation of AST and ALT levels compared with alkaline phosphatase levels. Cholestatic injury is defined as disproportionate elevation of alkaline phosphatase level as compared with AST and ALT levels...
January 2017: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/27992490/intragenic-deletions-in-atp7b-as-an-unusual-molecular-genetics-mechanism-of-wilson-s-disease-pathogenesis
#6
Theodor Todorov, Prahlad Balakrishnan, Alexey Savov, Piotr Socha, Hartmut H J Schmidt
Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B resulting in copper overload in the liver and brain. Direct sequencing is routinely used to confirm WD diagnosis; however, partial and whole gene deletions in the heterozygous state cannot be detected by exon amplification since the normal allele will mask its presence. The aim of the present work was to search for unusual mutational events in the unexplained WD cases and to provide insight into the mechanisms. Out of 1420 clinically and biochemically confirmed WD samples received between 2000 and 2014 for routine mutation analysis, we were unable to detect mutant alleles in 142 samples, after extensive sequencing analysis...
2016: PloS One
https://www.readbyqxmd.com/read/27982432/spectrum-of-atp7b-mutations-and-genotype-phenotype-correlation-in-a-large-scale-chinese-patients-with-wilson-disease
#7
Nan Cheng, Huagui Wang, Weili Wu, Renmin Yang, Licheng Liu, Yongzhu Han, Liping Guo, Jiyuan Hu, Lizhi Xu, Jinyin Zhao, Yongsheng Han, Qi Liu, Kai Li, Xun Wang, Weijun Chen
Wilson disease, an inherited disorder associated with ATP7B gene, has a wide spectrum of genotypes and phenotypes. In this study, we developed a rapid multiplex PCR MassArray method for detecting 110 mutant alleles of interest, and used it to examine genomic DNA from 1222 patients and 110 healthy controls. In patients not found to have any mutation in the 110 selected alleles, PCR-Sanger sequencing was used to examine the ATP7B gene. We identified 88 mutations, including nine novel mutations. Our analyses revealed p...
December 15, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27941192/clinical-presentations-of-wilson-disease-among-polish-children
#8
Magdalena Naorniakowska, Maciej Dądalski, Diana Kamińska, Wojciech Jańczyk, Dariusz Lebensztejn, Krzysztof Fyderek, Jacek Wysocki, Piotr Socha
INTRODUCTION: Wilson disease (WD) may present from early childhood up to the eighth decade, presenting with variable hepatic and neuropsychiatric symptoms. Establishing the diagnosis is straightforward if the major clinical and laboratory features are present. However, clinical phenotypes are highly varied and early, proper diagnosis can be challenging. AIM: The aim of our study was to analyze clinical presentations and diagnostic tests of Polish pediatric patients with WD...
2016: Developmental Period Medicine
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
Haarin Chun, Anuj Kumar Sharma, Jaekwon Lee, Jefferson Chan, Shang Jia, Byung-Eun Kim
Copper plays key catalytic and regulatory roles in biochemical processes essential for normal growth, development, and health. Defects in copper 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 copper. The intestinal enterocyte is a key regulatory point for copper absorption into the body; however, the mechanisms by which intestinal cells transport copper to maintain organismal copper homeostasis are poorly understood...
January 6, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27878136/phenotypic-convergence-of-menkes-and-wilson-disease
#16
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
#17
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
#18
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...
2017: European Neurology
https://www.readbyqxmd.com/read/27863968/periocular-periorbital-and-orbital-pathology-in-liver-disease
#19
REVIEW
William J Carroll, Travis Peck, Thomas L Jenkins, Zeynel A Karcioglu
Although 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 or 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 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
#20
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
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