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https://www.readbyqxmd.com/read/28346666/disseminated-peripheral-neuroblastoma-in-a-rhodesian-ridgeback-dog
#1
R W Cook, L A Abraham, C I McCowan
CASE REPORT: A 4-year-old neutered male Rhodesian Ridgeback dog with right-sided Horner's syndrome, bilateral laryngeal paralysis, neck pain and bilateral hindlimb ataxia was euthanased following deterioration of its neurological status. Necropsy examination revealed an off-white retropharyngeal neoplastic mass (100 × 30 × 30 mm) attached to the base of the skull on the right side and macroscopic nodular metastases in the spleen and three vertebral bodies (C6, C7 and T6), including a nodule attached to the dura at C7...
April 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28346404/chemical-screening-identifies-atm-as-a-target-for-alleviating-senescence
#2
Hyun Tae Kang, Joon Tae Park, Kobong Choi, Yongsub Kim, Hyo Jei Claudia Choi, Chul Won Jung, Young-Sam Lee, Sang Chul Park
Senescence, defined as irreversible cell-cycle arrest, is the main driving force of aging and age-related diseases. Here, we performed high-throughput screening to identify compounds that alleviate senescence and identified the ataxia telangiectasia mutated (ATM) inhibitor KU-60019 as an effective agent. To elucidate the mechanism underlying ATM's role in senescence, we performed a yeast two-hybrid screen and found that ATM interacted with the vacuolar ATPase V1 subunits ATP6V1E1 and ATP6V1G1. Specifically, ATM decreased E-G dimerization through direct phosphorylation of ATP6V1G1...
March 27, 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#3
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28344481/stability-of-erythropoietin-repackaging-in-polypropylene-syringes-for-clinical-use
#4
Angela Marsili, Giorgia Puorro, Chiara Pane, Anna de Rosa, Giovanni Defazio, Carlo Casali, Antonio Cittadini, Giuseppe de Michele, Brunello Ettore Florio, Alessandro Filla, Francesco Saccà
Introduction: Epoetin alfa (Eprex®) is a subcutaneous, injectable formulation of short half-life recombinant human erythropoietin (rHuEPO). To current knowledge there are no published studies regarding the stability of rHuEPO once repackaging occurs (r-EPO) for clinical trial purposes. Materials and methods: We assessed EPO concentration in Eprex® and r-EPO syringes at 0, 60, 90, and 120 days after repackaging in polypropylene syringes. R-EPO was administered to 56 patients taking part in a clinical trial in Friedreich Ataxia...
February 2017: Saudi Pharmaceutical Journal: SPJ: the Official Publication of the Saudi Pharmaceutical Society
https://www.readbyqxmd.com/read/28343865/regulatory-role-of-rna-chaperone-tdp-43-for-rna-misfolding-and-repeat-associated-translation-in-sca31
#5
Taro Ishiguro, Nozomu Sato, Morio Ueyama, Nobuhiro Fujikake, Chantal Sellier, Akemi Kanegami, Eiichi Tokuda, Bita Zamiri, Terence Gall-Duncan, Mila Mirceta, Yoshiaki Furukawa, Takanori Yokota, Keiji Wada, J Paul Taylor, Christopher E Pearson, Nicolas Charlet-Berguerand, Hidehiro Mizusawa, Yoshitaka Nagai, Kinya Ishikawa
Microsatellite expansion disorders are pathologically characterized by RNA foci formation and repeat-associated non-AUG (RAN) translation. However, their underlying pathomechanisms and regulation of RAN translation remain unknown. We report that expression of expanded UGGAA (UGGAAexp) repeats, responsible for spinocerebellar ataxia type 31 (SCA31) in Drosophila, causes neurodegeneration accompanied by accumulation of UGGAAexp RNA foci and translation of repeat-associated pentapeptide repeat (PPR) proteins, consistent with observations in SCA31 patient brains...
March 18, 2017: Neuron
https://www.readbyqxmd.com/read/28341201/the-atm-kinase-inhibitor-ku-55933-provides-neuroprotection-against-hydrogen-peroxide-induced-cell-damage-via-a-%C3%AE-h2ax-p-p53-caspase-3-independent-mechanism-inhibition-of-calpain-and-cathepsin-d
#6
Jakub Chwastek, Danuta Jantas, Władysław Lasoń
The role of the kinase ataxia-telangiectasia mutated (ATM), a well-known protein engaged in DNA damage repair, in the regulation of neuronal responses to oxidative stress remains unexplored. Thus, the neuroprotective efficacy of KU-55933, a potent inhibitor of ATM, against cell damage evoked by oxidative stress (hydrogen peroxide, H2O2) has been studied in human neuroblastoma SH-SY5Y cells and compared with the efficacy of this agent in models of doxorubicin (Dox)- and staurosporine (St)-evoked cell death. KU-55933 inhibited the cell death induced by H2O2 or Dox but not by St in undifferentiated (UN-) and retinoic acid-differentiated (RA)-SH-SY5Y cells, with a more pronounced effect in the latter cell phenotype...
March 21, 2017: International Journal of Biochemistry & Cell Biology
https://www.readbyqxmd.com/read/28340953/clinical-features-of-chinese-patients-with-gerstmann-str%C3%A3-ussler-scheinker-identified-by-targeted-next-generation-sequencing
#7
Hong-Fu Li, Zhi-Jun Liu, Hai-Lin Dong, Juan-Juan Xie, Shao-Yun Zhao, Wang Ni, Yi Dong, Zhi-Ying Wu
Gerstmann-Sträussler-Scheinker (GSS) is an autosomal dominant neurodegenerative disease due to mutations within prion protein (PRNP) gene. Clinically, it is not easy to distinguish GSS from spinocerebellar ataxia (SCA), especially in the early stage of disease. We aimed to identify genetic mutations in 8 Chinese pedigrees with dominant ataxia but excluded dynamic mutations of SCA genes. Targeted next-generation sequencing was performed in the 8 probands. A customized panel was designed to capture 24 known causative genes, including 15 autosomal dominant SCA genes and 9 dementia-related genes...
January 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28338211/multidisciplinary-care-of-children-and-young-people-with-ataxia-telangiectasia
#8
William P Whitehouse
No abstract text is available yet for this article.
March 24, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28334952/dnmt1-mutations-found-in-hsanie-patients-affect-interaction-with-uhrf1-and-neuronal-differentiation
#9
Martha Smets, Stephanie Link, Patricia Wolf, Katrin Schneider, Veronica Solis, Joel Ryan, Daniela Meilinger, Weihua Qin, Heinrich Leonhardt
DNMT1 is recruited to substrate sites by PCNA and UHRF1 to maintain DNA methylation after replication. The cell cycle dependent recruitment of DNMT1 is mediated by the PCNA-binding domain (PBD) and the targeting sequence (TS) within the N-terminal regulatory domain. The TS domain was found to be mutated in patients suffering from hereditary sensory and autonomic neuropathies with dementia and hearing loss (HSANIE) and autosomal dominant cerebellar ataxia deafness and narcolepsy (ADCA-DN) and is associated with global hypomethylation and site specific hypermethylation...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334945/ubiquitin-related-network-underlain-by-cag-n-loci-modulate-age-at-onset-in-machado-joseph-disease
#10
Zhao Chen, Chunrong Wang, Caifa Zheng, Zhe Long, Li Cao, Xunhua Li, Huifang Shang, Xinzhen Yin, Baorong Zhang, Jingyu Liu, Dongxue Ding, Yun Peng, Huirong Peng, Wei Ye, Rong Qiu, Qian Pan, Kun Xia, Shengdi Chen, Jorge Sequeiros, Tetsuo Ashizawa, Beisha Tang, Hong Jiang
No abstract text is available yet for this article.
February 15, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#11
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28331931/cranial-thoracic-vertebral-canal-stenosis-in-three-juvenile-large-breed-brachycephalic-dogs-treated-by-unilateral-hemilaminectomy
#12
Amanda Miller, Andrew Marchevsky
OBJECTIVE: To describe the surgical treatment and outcome for juvenile dogs with cranial thoracic vertebral canal stenosis treated by unilateral hemilaminectomy. STUDY DESIGN: Case series. ANIMALS: Three large-breed brachycephalic dogs of various breeds (Dogue de Bordeaux, Australian Bulldog, Boerboel) with neurological signs consistent with a myelopathy of the third thoracic (T) to third lumbar (L) spinal cord segment. METHODS: Information on clinical presentation, diagnostic imaging, surgical procedures, postoperative complications, recovery and outcome is described...
March 23, 2017: Veterinary and Comparative Orthopaedics and Traumatology: V.C.O.T
https://www.readbyqxmd.com/read/28330871/human-mitochondrial-cytochrome-c-oxidase-assembly-factor-cox18-acts-transiently-as-a-membrane-insertase-within-the-subunit-2-maturation-module
#13
Myriam Bourens, Antoni Barrientos
Defects in mitochondrial cytochrome c oxidase or respiratory chain complex IV (CIV) assembly are a frequent cause of human mitochondrial disorders. Specifically, mutations in four conserved assembly factors impinging the biogenesis of the mitochondrion-encoded catalytic core subunit 2 (COX2) result in myopathies. These factors afford stability of newly-synthesized COX2 (the dystonia-ataxia syndrome protein COX20), a protein with two transmembrane domains, and maturation of its copper center CuA (cardiomyopathy proteins SCO1, SCO2 and COA6)...
March 22, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28330790/outcomes-of-diagnostic-exome-sequencing-in-patients-with-diagnosed-or-suspected-autism-spectrum-disorders
#14
Mari Rossi, Dima El-Khechen, Mary Helen Black, Kelly D Farwell Hagman, Sha Tang, Zöe Powis
BACKGROUND: Exome sequencing has recently been proved to be a successful diagnostic method for complex neurodevelopmental disorders. However, the diagnostic yield of exome sequencing for autism spectrum disorders has not been extensively evaluated in large cohorts to date. MATERIALS AND METHODS: We performed diagnostic exome sequencing in a cohort of 163 individuals with autism spectrum disorder (66.3%) or autistic features (33.7%). RESULTS: The diagnostic yield observed in patients in our cohort was 25...
February 8, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#15
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326016/early-origin-and-evolution-of-the-angelman-syndrome-ubiquitin-ligase-gene-ube3a
#16
REVIEW
Masaaki Sato
The human Ube3a gene encodes an E3 ubiquitin ligase and exhibits brain-specific genomic imprinting. Genetic abnormalities that affect the maternal copy of this gene cause the neurodevelopmental disorder Angelman syndrome (AS), which is characterized by severe mental retardation, speech impairment, seizure, ataxia and some unique behavioral phenotypes. In this review article, I highlight the evolution of the Ube3a gene and its imprinting to provide evolutionary insights into AS. Recent comparative genomic studies have revealed that Ube3a is most phylogenetically similar to HECTD2 among the human HECT (homologous to the E6AP carboxyl terminus) family of E3 ubiquitin ligases, and its distant evolutionary origin can be traced to common ancestors of fungi and animals...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28325525/clinical-heterogeneity-of-glycine-encephalopathy-in-three-palestinian-siblings-a-novel-mutation-in-the-glycine-decarboxylase-gldc-gene
#17
Waseem Khraim, Bassam Abu-Libdeh, Suhail Ayesh, Imad Dweikat
INTRODUCTION: Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia (NKH), is a rare inborn error of glycine metabolism caused by a defect in glycine cleavage system, a multi-enzyme complex located in mitochondrial membrane. This defect results in elevated glycine concentration in plasma and cerebrospinal fluid (CSF). Clinical manifestations vary from severe lethargy, hypoactivity and apneic episodes in the neonatal form, mild or moderate psychomotor delay and seizures in the infantile form, and abnormal behaviors, ataxia and choreoathetoid movements in late onset form...
March 18, 2017: Brain & Development
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#18
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28323306/metronidazol-gav-sv%C3%A3-r-biverkning-med-neurologiska-symtom-m%C3%A3-jligen-finns-ett-m%C3%A3-rkertal-av-odiagnostiserade-patienter
#19
Marina Karayianni, Anders von Heijne, Ann-Charlotte Laska
Encefalopathy as a side effect of metronidazole therapy - a case report  Neurological symptoms as side effects of pharmacological treatment generally tend to remain underdiagnosed. In this report, we present a case of a 79 year old patient that developed encephalopathy whilst undergoing prophylactic treatment with Metronidazole. The initial presentation of disseminated neurological symptoms lead to the suspicion of a cerebrovascular lesion. However, exacerbation of symptomatology with gait disturbance, ataxia and dysarthria challenged the preliminary diagnosis...
March 20, 2017: Läkartidningen
https://www.readbyqxmd.com/read/28322689/neurologic-complications-of-influenza-b-virus-infection-in-adults-romania
#20
Corneliu P Popescu, Simin A Florescu, Emilia Lupulescu, Mihaela Zaharia, Gratiela Tardei, Mihaela Lazar, Emanoil Ceausu, Simona M Ruta
We characterized influenza B virus-related neurologic manifestations in an unusually high number of hospitalized adults at a tertiary care facility in Romania during the 2014-15 influenza epidemic season. Of 32 patients with a confirmed laboratory diagnosis of influenza B virus infection, neurologic complications developed in 7 adults (median age 31 years). These complications were clinically diagnosed as confirmed encephalitis (4 patients), possible encephalitis (2 patients), and cerebellar ataxia (1 patient)...
April 2017: Emerging Infectious Diseases
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