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menkes disease

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https://www.readbyqxmd.com/read/28397223/-analysis-of-clinical-features-and-genetic-mutations-in-a-chinese-family-affected-with-menkes-disease
#1
Xiaorong Shi, Xi Lin, Zhonglin Ke, Shuqing Chen, Bin Wu, Guiling Mo
OBJECTIVE: To delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease. METHODS: Clinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene. RESULTS: The patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28397151/identification-of-novel-atp7a-mutations-and-prenatal-diagnosis-in-chinese-patients-with-menkes-disease
#2
Binbin Cao, Xiaoping Yang, Yinyin Chen, Qionghui Huang, Ye Wu, Qiang Gu, Jiangxi Xiao, Huixia Yang, Hong Pan, Junya Chen, Yu Sun, Li Ren, Chengfeng Zhao, Yanhua Deng, Yanling Yang, Xingzhi Chang, Zhixian Yang, Yuehua Zhang, Zhengping Niu, Juli Wang, Xiru Wu, Jingmin Wang, Yuwu Jiang
Menkes disease (MD) is a fatal X-linked multisystem disease caused by mutations in ATP7A. In this study, clinical and genetic analysis was performed in 24 male MD patients. Development delay, seizures, kinky coarse hair, and dystonia were found in 24, 22, 24, and 24 patients, respectively. Serum ceruloplasmin/copper tested in 19 patients was low. Abnormal classic features of MD presented in the MRI/MRA of 19 patients. Seventeen mutations of ATP7A were identified in 22 patients. Twelve were novel mutations including three small deletion/insertion, one missense mutation, two nonsense mutations, three splicing-site mutations, and three gross deletions...
April 10, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28389643/characterization-of-atp7a-missense-mutants-suggests-a-correlation-between-intracellular-trafficking-and-severity-of-menkes-disease
#3
Tina Skjørringe, Per Amstrup Pedersen, Sidsel Salling Thorborg, Poul Nissen, Pontus Gourdon, Lisbeth Birk Møller
Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking. ATP7A is found in the Trans-Golgi Network (TGN) at low copper concentrations, and in the post-Golgi compartments and the plasma membrane at higher concentrations. Here we have analyzed the effect of 36 ATP7A missense mutations identified in phenotypically different MD patients. Nine mutations identified in patients with severe MD, virtually eliminated ATP7A synthesis, in most cases due to aberrant RNA splicing...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28318055/menkes-disease-mimicking-child-abuse
#4
Rebecca J Droms, Jillian F Rork, Riley McLean, Madelena Martin, Leah Belazarian, Karen Wiss
Althouygh Menkes disease has well-recognized neurologic, developmental, and cutaneous features, the initial presentation may resemble child abuse. We describe a 5-month-old boy with multiple fractures indicative of nonaccidental trauma who was ultimately diagnosed with Menkes disease. Copper deficiency leads to connective tissue abnormalities and may result in subdural hematomas, wormian bones, cervical spine defects, rib fractures, and spurring of the long bone metaphyses. Several of these findings, including fractures and subdural hematomas, may be misinterpreted as child abuse...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28298846/menkes-disease-and-response-to-copper-histidine-an-indian-case-series
#5
Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
BACKGROUND: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy...
January 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28271632/the-role-of-insufficient-copper-in-lipid-synthesis-and-fatty-liver-disease
#6
REVIEW
Austin Morrell, Savannah Tallino, Lei Yu, Jason L Burkhead
The essential transition metal copper is important in lipid metabolism, redox balance, iron mobilization, and many other critical processes in eukaryotic organisms. Genetic diseases where copper homeostasis is disrupted, including Menkes disease and Wilson disease, indicate the importance of copper balance to human health. The severe consequences of insufficient copper supply are illustrated by Menkes disease, caused by mutation in the X-linked ATP7A gene encoding a protein that transports copper from intestinal epithelia into the bloodstream and across the blood-brain barrier...
April 2017: IUBMB Life
https://www.readbyqxmd.com/read/28270260/what-is-the-diagnostic-value-of-the-paediatric-exercise-tolerance-test-results-from-a-uk-centre
#7
Magdalena A Sajnach-Menke, Sarah C Walpole
Purpose The aim of this study was to determine whether the exercise tolerance test can provide diagnostic and prognostic information regarding children and young adults and help predict outcome. METHODS: A total of 87 patients, aged 7-29 years (median 13, mean 13.4) were selected retrospectively. They underwent exercise test at the Freeman Hospital from December, 2015 to May, 2016. There were two groups of patients - 46 had symptoms such as chest pain, palpitations, syncope, or dyspnoea on exertion and no cardiac diagnosis, and 40 patients had a cardiac diagnosis such as hypertrophic cardiomyopathy, transposition of the great arteries with post-arterial switch operation, aortic stenosis or regurgitation, tetralogy of Fallot, abnormal coronary arteries, Wolff-Parkinson-White syndrome, or supraventricular tachycardia...
March 8, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28262205/characterization-of-mast-cell-activation-syndrome
#8
Lawrence B Afrin, Sally Self, Jeremiah Menk, John Lazarchick
BACKGROUND: Mast cell activation syndrome (MCAS), a recently recognized nonneoplastic mast cell disease driving chronic multisystem inflammation and allergy, appears prevalent and thus important. We report the first systematic characterization of a large MCAS population. METHOD: Demographics, comorbidities, symptoms, family histories, physical examination and laboratory findings were reviewed in 298 retrospective and 115 prospective patients with MCAS. Blood samples from prospective subjects were examined by flow cytometry for clonal mast cell disease and tested for cytokines potentially driving the monocytosis frequent in MCAS...
March 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28239974/simultaneous-monitoring-of-monoamines-amino-acids-nucleotides-and-neuropeptides-by-liquid-chromatography-tandem-mass-spectrometry-and-its-application-to-neurosecretion-in-bovine-chromaffin-cells
#9
Aneta Wojnicz, José Avendaño-Ortiz, Ricardo de Pascual, Lucía Ruiz-Pascual, Antonio G García, Ana Ruiz-Nuño
The primary functions of adrenal medullary chromaffin cells are the synthesis and storage in their chromaffin vesicles of the catecholamines noradrenaline (NA) and adrenaline (AD), and their subsequent release into the bloodstream by Ca(2+) -dependent exocytosis under conditions of fear or stress (fight or flight response). Several monoamines, nucleotides and opiates, such as leucine-enkephalin (LENK) and methionine-enkephalin (MENK), are also co-stored and co-released with the catecholamines. However, other neurotransmitters have not been studied in depth...
August 2016: Journal of Mass Spectrometry: JMS
https://www.readbyqxmd.com/read/28219768/copper-therapy-reduces-intravascular-hemolysis-and-derepresses-ferroportin-in-mice-with-mosaic-mutation-atp7a-mo-ms-an-implication-for-copper-mediated-regulation-of-the-slc40a1-gene-expression
#10
Małgorzata Lenartowicz, Rafał R Starzyński, Aneta Jończy, Robert Staroń, Justyna Antoniuk, Wojciech Krzeptowski, Paweł Grzmil, Aleksandra Bednarz, Olga Pierzchała, Mateusz Ogórek, Zenon Rajfur, Zbigniew Baster, Paweł Lipiński
Mosaic mutant mice displaying functional dysfunction of Atp7a copper transporter (the Menkes ATPase) are an established animal model of Menkes disease and constitute a convenient tool for investigating connections between copper and iron metabolisms. This model allows to explore changes in iron metabolism in suckling mutant mice suffering from systemic copper deficiency as well as in young and adult ones undergone copper therapy, which reduces lethal effect of the Atp7a gene mutation. Our recent study demonstrated that 14-day-old mosaic mutant males display blood cell abnormalities associated with intravascular hemolysis, and show disturbances in the functioning of the hepcidin-ferroportin regulatory axis, which controls systemic iron homeostasis...
February 17, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28132860/mantle-cell-lymphoma-with-a-novel-t-11-12-q13-p11-2-a-proposed-alternative-mechanism-of-ccnd1-upregulation
#11
Joshua R Menke, George Vasmatzis, Stephen Murphy, Lin Yang, David M Menke, Han W Tun, Rebecca L King, Stephanie A Smoley, Rhett P Ketterling, William R Sukov
Mantle cell lymphoma (MCL) is typically characterized by t(11;14) which places the IGH@ enhancer elements upstream of CCND1. This fusion results in upregulation of CCND1 and consequently its protein product cyclin D1. Recent studies have shown that in MCL, mutations or translocations occurring within the 3' untranslated region (UTR) of the CCND1 gene can result in a truncated mRNA transcript that is more stable and associated with more aggressive disease. We identified a case of MCL showing cyclin D1 overexpression by immunohistochemistry and a t(11;12)(q13;p11...
January 26, 2017: Human Pathology
https://www.readbyqxmd.com/read/28119449/in-vivo-modeling-of-the-pathogenic-effect-of-copper-transporter-mutations-that-cause-menkes-and-wilson-diseases-motor-neuropathy-and-susceptibility-to-alzheimer-s-disease
#12
Stephen W Mercer, Jianbin Wang, Richard Burke
Copper is an essential biometal, and several inherited diseases are directly associated with a disruption to normal copper homeostasis. The best characterized are the copper deficiency and toxicity disorders Menkes and Wilson diseases caused by mutations in the p-type Cu-ATPase genes ATP7A and ATP7B, respectively. Missense mutations in the C-terminal portion of ATP7A have also been shown to cause distal motor neuropathy, whereas polymorphisms in ATP7B are associated with increased risk of Alzheimer's disease...
March 10, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28087540/international-evidence-based-consensus-diagnostic-criteria-for-hhv-8-negative-idiopathic-multicentric-castleman-disease
#13
David C Fajgenbaum, Thomas S Uldrick, Adam Bagg, Dale Frank, David Wu, Gordan Srkalovic, David Simpson, Amy Y Liu, David Menke, Shanmuganathan Chandrakasan, Mary Jo Lechowicz, Raymond S M Wong, Sheila Pierson, Michele Paessler, Jean-François Rossi, Makoto Ide, Jason Ruth, Michael Croglio, Alexander Suarez, Vera Krymskaya, Amy Chadburn, Gisele Colleoni, Sunita Nasta, Raj Jayanthan, Christopher S Nabel, Corey Casper, Angela Dispenzieri, Alexander Fosså, Dermot Kelleher, Razelle Kurzrock, Peter Voorhees, Ahmet Dogan, Kazuyuki Yoshizaki, Frits van Rhee, Eric Oksenhendler, Elaine S Jaffe, Kojo S J Elenitoba-Johnson, Megan S Lim
Human herpesvirus-8 (HHV-8)-negative, idiopathic multicentric Castleman disease (iMCD) is a rare and life-threatening disorder involving systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. iMCD accounts for one third to one half of all cases of MCD and can occur in individuals of any age. Accurate diagnosis is challenging, because no standard diagnostic criteria or diagnostic biomarkers currently exist, and there is significant overlap with malignant, autoimmune, and infectious disorders...
March 23, 2017: Blood
https://www.readbyqxmd.com/read/28012438/on-the-nature-of-the-cu-rich-aggregates-in-brain-astrocytes
#14
Brendan Sullivan, Gregory Robison, Jenna Osborn, Martin Kay, Peter Thompson, Katherine Davis, Taisiya Zakharova, Olga Antipova, Yulia Pushkar
Fulfilling a bevy of biological roles, copper is an essential metal for healthy brain function. Cu dyshomeostasis has been demonstrated to be involved in some neurological conditions including Menkes and Alzheimer's diseases. We have previously reported localized Cu-rich aggregates in astrocytes of the subventricular zone (SVZ) in rodent brains with Cu concentrations in the hundreds of millimolar. Metallothionein, a cysteine-rich protein critical to metal homeostasis and known to participate in a variety of neuroprotective and neuroregenerative processes, was proposed as a binding protein...
April 2017: Redox Biology
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/27855472/sternal-resection-for-breast-cancer-metastases
#17
Stefan Sponholz, Natalie Baldes, Moritz Schirren, Selma Oguzhan, Henrik Menke, Joachim Schirren
Background Sternal infiltration of breast cancer (BC) is a rare but known phenomenon. Sternal resection for this cancer is not completely investigated. For this reason, the aim of this study was to examine long-term survival and prognosticators for prolonged survival of our patients after sternal resection. Also, morbidity and mortality were investigated. Materials and Methods We retrospectively analyzed our prospective database of 20 patients who underwent a sternum resection (partial/complete) for BC in our institution between 2003 and 2014...
November 17, 2016: Thoracic and Cardiovascular Surgeon
https://www.readbyqxmd.com/read/27752938/neuroimaging-endpoints-in-amyotrophic-lateral-sclerosis
#18
REVIEW
Ricarda A L Menke, Federica Agosta, Julian Grosskreutz, Massimo Filippi, Martin R Turner
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative, clinically heterogeneous syndrome pathologically overlapping with frontotemporal dementia. To date, therapeutic trials in animal models have not been able to predict treatment response in humans, and the revised ALS Functional Rating Scale, which is based on coarse disability measures, remains the gold-standard measure of disease progression. Advances in neuroimaging have enabled mapping of functional, structural, and molecular aspects of ALS pathology, and these objective measures may be uniquely sensitive to the detection of propagation of pathology in vivo...
January 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/27746876/post-transplant-lymphoproliferative-disorder-presenting-as-cd20-negative-plasmablastic-lymphoma-in-the-lung
#19
Tasneem Kaleem, Jennifer A Crozier, David M Menke, Taimur Sher
Post-transplant lymphoproliferative disorders (PTLD) are a serious complication of transplantation with a high mortality. Most PTLD present within the first year of transplantation and are associated with Epstein-Barr virus (EBV) infection. Plasmablastic lymphoma (PBL) is a rare but aggressive disease originally described in patients with HIV, presenting most commonly in the jaw and oral mucosa. To our knowledge, this is the first case of PBL presenting as PTLD of the lung in a HIV and EBV negative patient...
September 5, 2016: Rare Tumors
https://www.readbyqxmd.com/read/27712078/extracellular-proteome-and-citrullinome-of-the-oral-pathogen-porphyromonas-gingivalis
#20
Tim Stobernack, Corinna Glasner, Sabryna Junker, Giorgio Gabarrini, Menke de Smit, Anne de Jong, Andreas Otto, Dörte Becher, Arie Jan van Winkelhoff, Jan Maarten van Dijl
Porphyromonas gingivalis is an oral pathogen associated with the inflammatory disease periodontitis. Periodontitis and P. gingivalis have been associated with rheumatoid arthritis. One of the hallmarks of rheumatoid arthritis is the loss of tolerance against citrullinated proteins. Citrullination is a post-translational modification of arginine residues, leading to a change in structure and function of the respective protein. This modification, which is catalyzed by peptidylarginine deiminases (PADs), plays a role in several physiological processes in the human body...
December 2, 2016: Journal of Proteome Research
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