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https://www.readbyqxmd.com/read/29112372/tuning-the-color-palette-of-fluorescent-copper-sensors-through-systematic-heteroatom-substitution-at-rhodol-cores
#1
Shang Jia, Karla M Ramos-Torres, Safacan Kolemen, Cheri M Ackerman, Christopher J Chang
Copper is an essential nutrient for sustaining life, and emerging data have expanded the roles of this metal in biology from its canonical functions as a static enzyme cofactor to dynamic functions as a transition metal signal. At the same time, loosely bound, labile copper pools can trigger oxidative stress and damaging events that are detrimental if misregulated. The signal/stress dichotomy of copper motivates the development of new chemical tools to study its spatial and temporal distributions in native biological contexts such as living cells...
November 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/29096848/immunoadsorption-for-treatment-of-severe-atopic-dermatitis
#2
Joanna Wegner, Julia Weinmann-Menke, Esther von Stebut
Atopic dermatitis (AD) is a common disease affecting up to 10-20% of the population with the largest disease burden in childhood. Treatment options include basic emollient treatment, topical as well as systemic immunosuppressants. The pathogenesis is complex and among various triggers, genetic predisposition and immunological alterations contribute to development of disease. Atopy is common in patients with AD and many patients have high levels of Immunoglobulin E (IgE), some of which recognizes exogenous or auto/self-allergens...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29073217/design-and-synthesis-of-a-fluorescent-probe-based-on-naphthalene-anhydride-and-its-detection-of-copper-ions
#3
Guangjie He, Chenxi Liu, Xiaobo Liu, Qingzhi Wang, Aiying Fan, Songjun Wang, Xinlai Qian
Copper, as the third most abundant transition metal ions of human, plays an essential role in the redox reaction, signal transduction, hematopoiesis, and other physiological processes. Abnormal content of copper ions in the body will cause some diseases such as anemia, coronary heart disease, Menkes' syndrome. In this article, a new fluorescence probe L for Cu2+ was designed and synthetized by using 4-bromo-1,8 naphthalene anhydride and 2-thiophene formaldehyde as raw materials. Fluorescent probe L itself exhibited strong fluorescence, upon the addition of Cu2+ ions, the fluorescence was quenched...
2017: PloS One
https://www.readbyqxmd.com/read/29029220/effects-of-host-traits-and-land-use-changes-on-the-gut-microbiota-of-the-namibian-black-backed-jackal-canis-mesomelas
#4
Sebastian Menke, Matthias Meier, John K E Mfune, Joerg Melzheimer, Bettina Wachter, Simone Sommer
Host traits and environmental factors drive the natural variation in gut microbiota, and disruption in homeostasis can cause infections and chronic diseases. African wildlife is increasingly facing human-induced agricultural habitats, which also amplifies the contact probability with livestock with unknown consequences for wildlife gut microbiotas and the risk of transmission of potentially pathogenic bacteria. We applied high-throughput sequencing of bacterial 16S rRNA genes and microsatellite genotyping to investigate the impact of host traits and habitat use on the gut microbiotas of black-backed jackals (Canis mesomelas)...
November 1, 2017: FEMS Microbiology Ecology
https://www.readbyqxmd.com/read/28975018/comprehensive-genomic-profiling-of-a-rare-thyroid-follicular-dendritic-cell-sarcoma
#5
Jaime I Davila, Jason S Starr, Steven Attia, Chen Wang, Ryan A Knudson, Brian M Necela, Vivekananda Sarangi, Zhifu Sun, Yingxue Ren, John D Casler, David M Menke, Gavin R Oliver, Richard W Joseph, John A Copland, Alexander S Parker, Jean-Pierre A Kocher, E Aubrey Thompson, Robert C Smallridge, Yan W Asmann
We previously reported an extremely rare case of follicular dendritic cell sarcoma (FDCS) presented as a thyroid mass. Given the rarity of this disease, there are no personalized and molecularly targeted treatment options due to the lack of knowledge in the genomic makeup of the tumor. A 44-year-old white woman was diagnosed with an extranodal FDCS in thyroid. The patient underwent a total thyroidectomy, central compartment dissection, parathyroid re-implantation, and adjuvant radiation therapy. Tumor DNA sequencing of 236 genes by FoundationOne panel found truncating mutations in PTEN and missense mutations in RET and TP53...
July 3, 2017: Rare Tumors
https://www.readbyqxmd.com/read/28955085/menkes-disease-a-rare-disorder
#6
Sidra Kaleem Jafri, Raman Kumar, Shazia Kulsoom Lashari, Prem Chand
Menkes disease (MD) (OMIM: 309400) is also known as kinky hair disease, trichopoliodystrophy, and steely hair. A 7-months-old, male infant presented to our outpatient department in June 2016 with history of developmental delay and seizures. Seizures started at 3 months of age and worsened progressively to clusters of extensor spasms. Physical examination showed sparse and kinky hair. Neurological examination revealed a central hypotonia with marked decrease in muscle power with normal deep tendon reflexes. The serum ceruloplasmin level and serum copper level were decreased...
October 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28782134/gut-microbiomes-of-free-ranging-and-captive-namibian-cheetahs-diversity-putative-functions-and-occurrence-of-potential-pathogens
#7
Wasimuddin, Sebastian Menke, Jörg Melzheimer, Susanne Thalwitzer, Sonja Heinrich, Bettina Wachter, Simone Sommer
Although the significance of the gut microbiome for host health is well acknowledged, the impact of host traits and environmental factors on the interindividual variation of gut microbiomes of wildlife species is not well understood. Such information is essential; however, as changes in the composition of these microbial communities beyond the natural range might cause dysbiosis leading to increased susceptibility to infections. We examined the potential influence of sex, age, genetic relatedness, spatial tactics and the environment on the natural range of the gut microbiome diversity in free-ranging Namibian cheetahs (Acinonyx jubatus)...
October 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28761814/a-novel-nonsense-atp7a-pathogenic-variant-in-a-family-exhibiting-a-variable-occipital-horn-syndrome-phenotype
#8
Maria Teresa Bonati, Federico Verde, Uros Hladnik, Paola Cattelan, Luca Campana, Chiara Castronovo, Nicola Ticozzi, Luca Maderna, Claudia Colombrita, Sergio Papa, Paolo Banfi, Vincenzo Silani
We report on a family with occipital horn syndrome (OHS) diagnosed in the proband's late fifties. A novel ATP7A pathogenic variant (c.4222A > T, p.(Lys1408*)), representing the first nonsense variant and the second late truncation causing OHS rather than classic Menkes disease, was found to segregate in the family. The predicted maintenance of transmembrane domains is consistent with a residual protein activity, which may explain the mild clinical presentation.
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28751535/how-to-use-tests-for-disorders-of-copper-metabolism
#9
Jane Armer, Christian De Goede
In paediatrics, one of our main aims in the diagnostic process is to identify any treatable conditions. The copper metabolism disorder Wilson's disease (WD) is one such condition that is caused by mutations in the ATP7B gene. Delay in treatment could result in irreversible disability or even death. Although liver disease is the most common presenting feature in children, some children may initially present with a subtle neurological presentation only. In patients presenting with dystonia, tremor, dysarthria or with a deterioration in school performance, there should be a high index of suspicion for WD...
July 27, 2017: Archives of Disease in Childhood. Education and Practice Edition
https://www.readbyqxmd.com/read/28659046/renal-tubular-epithelial-cell-derived-baff-expression-mediates-kidney-damage-and-correlates-with-activity-of-proliferative-lupus-nephritis-in-mouse-and-men
#10
A Schwarting, M Relle, M Meineck, B Föhr, K Triantafyllias, A Weinmann, W Roth, J Weinmann-Menke
B-cell activating factor of the tumour necrosis factor family (BAFF) is a cytokine, mainly produced by hematopoietic cells (e.g. monocytes/macrophages, dendritic cells), indispensable for B-cell maturation. The BLISS studies have demonstrated that blocking BAFF by the human monoclonal antibody belimumab is a valuable therapeutic approach in patients with clinically and serologically active systemic lupus erythematosus (SLE). However, the defined sources of BAFF, which contributes to SLE, are still unclear. Recent findings show that BAFF expression is not restricted to myeloid cells...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28657131/a-37-years-old-menkes-disease-patient-residual-atp7a-activity-and-early-copper-administration-as-key-factors-in-beneficial-treatment
#11
Zeynep Tümer, Michael Petris, Sha Zhu, Julian Mercer, Jens Bukrinski, Stefan Bilz, Kurt Baerlocher, Nina Horn, Lisbeth B Møller
Menkes disease is a lethal disorder characterized by severe neurological symptoms and connective tissue abnormalities; and results from malfunctioning of cuproenzymes, which cannot receive copper due to a defective intracellular copper transporting protein, ATP7A. Early parenteral copper-histidine supplementation may modify disease progression substantially but beneficial effects of long-term treatment have been recorded in only a few patients. Here we report on the eldest surviving Menkes disease patient (37 years) receiving early-onset and long-term copper treatment...
June 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28654115/evidence-for-widespread-severe-brain-copper-deficiency-in-alzheimer-s-dementia
#12
Jingshu Xu, Stephanie J Church, Stefano Patassini, Paul Begley, Henry J Waldvogel, Maurice A Curtis, Richard L M Faull, Richard D Unwin, Garth J S Cooper
Datasets comprising simultaneous measurements of many essential metals in Alzheimer's disease (AD) brain are sparse, and available studies are not entirely in agreement. To further elucidate this matter, we employed inductively-coupled-plasma mass spectrometry to measure post-mortem levels of 8 essential metals and selenium, in 7 brain regions from 9 cases with AD (neuropathological severity Braak IV-VI), and 13 controls who had normal ante-mortem mental function and no evidence of brain disease. Of the regions studied, three undergo severe neuronal damage in AD (hippocampus, entorhinal cortex and middle-temporal gyrus); three are less-severely affected (sensory cortex, motor cortex and cingulate gyrus); and one (cerebellum) is relatively spared...
August 16, 2017: Metallomics: Integrated Biometal Science
https://www.readbyqxmd.com/read/28495946/neuroimaging-changes-in-menkes-disease-part-1
#13
REVIEW
R Manara, L D'Agata, M C Rocco, R Cusmai, E Freri, L Pinelli, F Darra, E Procopio, R Mardari, C Zanus, G Di Rosa, C Soddu, M Severino, M Ermani, D Longo, S Sartori
Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define the frequency rate, timing, imaging features, and evolution of intracranial vascular and white matter changes. According to our analysis, striking but also poorly evolutive vascular abnormalities characterize the very early phases of disease...
May 11, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28495940/neuroimaging-changes-in-menkes-disease-part-2
#14
REVIEW
R Manara, M C Rocco, L D'agata, R Cusmai, E Freri, L Giordano, F Darra, E Procopio, I Toldo, C Peruzzi, R Vittorini, A Spalice, C Fusco, M Nosadini, D Longo, S Sartori
This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper metabolism characterized by early, severe, and progressive neurologic involvement. According to our analysis, neurodegenerative changes and focal basal ganglia lesions already appear in the early phases of the disease. Subdural collections are less common than generally thought; however, their presence remains important because they might challenge the differential diagnosis with child abuse and might precipitate the clinical deterioration...
May 11, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28459846/gene-expression-patterns-in-the-progression-of-canine-copper-associated-chronic-hepatitis
#15
Karen Dirksen, Bart Spee, Louis C Penning, Ted S G A M van den Ingh, Iwan A Burgener, Adrian L Watson, Marian Groot Koerkamp, Jan Rothuizen, Frank G van Steenbeek, Hille Fieten
Copper is an essential trace element, but can become toxic when present in abundance. The severe effects of copper-metabolism imbalance are illustrated by the inherited disorders Wilson disease and Menkes disease. The Labrador retriever dog breed is a novel non-rodent model for copper-storage disorders carrying mutations in genes known to be involved in copper transport. Besides disease initiation and progression of copper accumulation, the molecular mechanisms and pathways involved in progression towards copper-associated chronic hepatitis still remain unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28451781/13-novel-putative-mutations-in-atp7a-found-in-a-cohort-of-25-italian-families
#16
Paola de Gemmis, Maria Vittoria Enzo, Elisa Lorenzetto, Paola Cattelan, Daniela Segat, Uros Hladnik
ATP7A is a copper-transporting P-type adenosine triphosphatase whose loss of function leads to the Menkes disease, an X-linked copper metabolism multi-organ disorder (1 in 100.000 births). Here we document our experience with the ATP7A linked diseases in Italy. We analyzed the exonic structure of the ATP7A gene in 25 unrelated Italian families and studied the variants of unknown significance. We identified 22 different DNA alterations, 13 of which first reported in this study. The classical Menkes phenotype was present in 21 of the 25 families and was linked with highly damaging mutations (7 nonsense; 4 frame-shift; 2 small in-frame deletions, 2 splice site alterations, 2 gross deletions, and 1 gross duplication)...
August 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28397223/-analysis-of-clinical-features-and-genetic-mutations-in-a-chinese-family-affected-with-menkes-disease
#17
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
#18
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...
August 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
#19
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
#20
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...
May 2017: Pediatric Dermatology
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