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https://www.readbyqxmd.com/read/29906526/promidis%C3%AE-a-tcr%C3%AE-signature-associated-with-immunodeficiencies-caused-by-v-d-j-recombination-defects
#1
Aurélie Berland, Jérémie Rosain, Sophie Kaltenbach, Vincent Allain, Nizar Mahlaoui, Isabelle Melki, Alice Fievet, Catherine Dubois d'Enghien, Marie Ouachée-Chardin, Laurence Perrin, Nathalie Auger, Funda Erol Cipe, Andrea Finocchi, Figen Dogu, Felipe Suarez, Despina Moshous, Thierry Leblanc, Alexandre Belot, Claire Fieschi, David Boutboul, Marion Malphettes, Lionel Galicier, Eric Oksenhendler, Stéphane Blanche, Alain Fischer, Patrick Revy, Dominique Stoppa-Lyonnet, Capucine Picard, Jean-Pierre de Villartay
- BACKGROUND: V(D)J recombination ensures the diversity of the adaptive immune system. While its complete defect causes Severe Combined Immunodeficiency (T-B-SCID), its suboptimal activity, is associated with a broad spectrum of immune manifestations such as late onset combined immunodeficiency and autoimmunity. The earliest molecular diagnosis of these patients is required to adopt the best therapy strategy, in particular when it involves myelo-ablative conditioning regimen for hematopoietic stem cell transplantation (HSCT)...
June 12, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29905099/diabetes-mellitus-with-concurrent-cerebellar-degeneration-and-necrosis-in-a-domestic-goose-anser-anser-domesticus
#2
Peter M DiGeronimo, Nicholas A Crossland, Angela Jugan, Javier G Nevarez, Thomas N Tully, Dawn E Evans
A 5-year-old sexually intact male Toulouse goose ( Anser anser domesticus) was presented for ataxia, polyuria, and polydipsia. The goose was cachectic and exhibited head tremors. Results of plasma biochemical analysis and point-of-care glucometry revealed persistent hyperglycemia. Despite supportive care and oral glipizide, the goose died within 48 hours of presentation. Necropsy revealed severe pancreatic atrophy and fibrosis with regionally extensive cerebellar encephalomalacia and generalized Purkinje cell degeneration and necrosis...
June 2018: Journal of Avian Medicine and Surgery
https://www.readbyqxmd.com/read/29904974/anti-glycine-receptor-antibody-related-disease-a-case-series-and-literature-review
#3
Andrew Swayne, Linda Tjoa, Simon Broadley, Sasha Dionisio, David Gillis, Leslie Jacobson, Mark R Woodhall, Andrew McNabb, Daniel Schweitzer, Ben Tsang, Angela Vincent, Sarosh R Irani, Richard Wong, Patrick Waters, Stefan Blum
INTRODUCTION: Antibodies to glycine receptors (GlyR-Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM), but subsequently identified in other clinical presentations. We aimed to assess the clinical associations of all patients identified with GlyR-Abs in Queensland, Australia between April 2014 to May 2017, and compared these to cases reported in the literature. METHODS: A literature review identified the clinical features of all published GlyR-Ab positive cases through online databases...
June 15, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29903454/physiology-of-the-cerebellum
#4
Egidio D'Angelo
The cerebellum is a central brain structure deeply integrated into major loops with the cerebral cortex, brainstem, and spinal cord. The cerebellum shows a complex regional organization consisting of modules with sagittal orientation. The cerebellum takes part in motor control and its lesions cause a movement incoordination syndrome called ataxia. Recent observations also imply involvement of the cerebellum in cognition and executive control, with an impact on pathologies like dyslexia and autism. The cerebellum operates as a forward controller learning to predict the precise timing of correlated events...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903450/scales-for-the-clinical-evaluation-of-cerebellar-disorders
#5
Katrin Bürk, Deborah A Sival
Clinical scales represent an important tool not only for the initial grading/scoring of disease and assessment of progression, but also for the quantification of therapeutic effects in clinical trials. There are several scales available for the clinical evaluation of cerebellar symptoms. While some scales have been developed and evaluated for specific cerebellar disorders such as Friedreich ataxia, others reliably capture cerebellar symptoms with no respect to the underlying etiology. Each scale has its strengths and weaknesses...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903447/neurophysiology-of-gait
#6
Mariano Serrao, Alberto Ranavolo, Carlo Casali
Beyond the classic clinical description, recent studies have quantitatively evaluated gait and balance dysfunction in cerebellar ataxias by means of modern motion analysis systems. These systems have the aim of clearly and quantitatively describing the differences, with respect to healthy subjects, in kinematic, kinetic, and surface electromyography variables, establishing the basis for a rehabilitation strategy and assessing its efficacy. The main findings which characterize the gait pattern of cerebellar patients are: increased step width, reduced ankle joint range of motion with increased coactivation of the antagonist muscles, and increased stride-to-stride variability...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903445/laboratory-investigations
#7
Eugen Boltshauser, Konrad P Weber
This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903443/nuclear-medicine-of-the-cerebellum
#8
Alessandra Vella, Mario Mascalchi
Single-photon emission computed tomography (SPECT) and positron emission tomography (PET) with different radiotracers enable regional evaluation of blood flow and glucose metabolism, of receptors and transporters of several molecules, and of abnormal deposition of peptides and proteins in the brain. The cerebellum has been used as a reference region for different radiotracers in several disease conditions. Whole-brain voxel-wise analysis is not affected by a priori knowledge bias and should be preferred. SPECT and PET have contributed to establishing the cerebellum role in motion, cognition, and emotion control in physiologic and pathophysiologic conditions...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903442/probing-the-neuroanatomy-of-the-cerebellum-using-tractography
#9
Christophe Habas, Mario Manto
Diffusion tensor imaging (DTI) is a noninvasive neuroimaging tool assessing the organization of white-matter tracts and brain microstructure in vivo. The technique takes into account the three-dimensional (3D) direction of diffusion of water in space, the brownian movements of water being constrained by the brain microstructure. The main direction of diffusion in the brain is extracted to obtain the principal direction of axonal projection within a given voxel. Overall, the diffusion tensor is a mathematic analysis of the magnitude/directionality (anisotropy) of the movement of water molecules in 3D space...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903437/cerebellar-motor-syndrome-from-children-to-the-elderly
#10
Mario Manto
More than a century after the description of its cardinal components, the cerebellar motor syndrome (CMS) remains a cornerstone of daily clinical ataxiology, in both children and adults. Anatomically, motor cerebellum involves lobules I-V, VI, and VIII. CMS is typically associated with errors in the metrics of voluntary movements and a lack of coordination. Symptoms and motor signs consist of speech deficits, impairments of limb movements, and abnormalities of posture/gait. Ataxic dysarthria has a typical scanning (explosive with staccato) feature, voice has a nasal character, and speech is slurred...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29903436/the-neuropathology-of-the-adult-cerebellum
#11
Arnulf H Koeppen
This chapter summarizes the neuropathologic features of nonneoplastic disorders of the adult cerebellum. Gait ataxia and extremity dysmetria are clinical manifestations of diseases that interrupt the complex cerebellar circuitry between the neurons of the cerebellar cortex, the cerebellar nuclei (especially the dentate nuclei), and the inferior olivary nuclei. The cerebellum is a prominent target of several sporadic and hereditary neurodegenerative diseases, including multiple system atrophy, spinocerebellar ataxia, and Friedreich ataxia...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29902454/ataxin-3-promotes-testicular-cancer-cell-proliferation-by-inhibiting-anti-oncogene-pten
#12
Zhan Shi, Jiaxin Chen, Xiangmin Zhang, Jian Chu, Zhitao Han, Da Xu, Sishun Gan, Xiuwu Pan, Jianqing Ye, Xingang Cui
Human Ataxin-3 protein was first identified as a transcript from patients with Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3). Recent studies have demonstrated that Ataxin-3 is involved in gastric cancer and lung cancer. However, the role of Ataxin-3 in testicular cancer (TC) remains poorly understood. This study aims to explore the significance of Ataxin-3 expression in TC. Firstly, we investigated 53 paired TC and para-tumor tissues and found that Ataxin-3 was overexpressed in TC tissues, and this overexpression of Ataxin-3 was correlated with tumor stages...
June 11, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29901106/microwave-hyperthermia-promotes-caspase%C3%A2-3-dependent-apoptosis-and-induces-g2-m-checkpoint-arrest-via-the-atm-pathway-in-non%C3%A2-small-cell-lung-cancer-cells
#13
Yan-Yan Zhao, Qiong Wu, Zhi-Bing Wu, Jing-Jing Zhang, Lu-Cheng Zhu, Yang Yang, Sheng-Lin Ma, Shi-Rong Zhang
Post-operative microwave (MW) hyperthermia has been applied as an important adjuvant therapy to enhance the efficacy of traditional cancer treatment. A better understanding of the molecular mechanisms of MW hyperthermia may provide guided and further information on clinical hyperthermia treatment. In this study, we examined the effects of MW hyperthermia on non‑small cell lung carcinoma (NSCLC) cells in vitro, as well as the underlying mechanisms. In order to mimic clinical treatment, we developed special MW heating equipment for this study...
June 13, 2018: International Journal of Oncology
https://www.readbyqxmd.com/read/29900789/systemic-encephalitozoonosis-due-to-encephalitozoon-cuniculi-strain-iv-in-a-vancouver-island-marmot-marmota-vancouverensis
#14
Ellie Milnes, Pauline Delnatte, Hugh Y Cai, Nicole Nemeth
  A 2-mo-old Vancouver Island marmot ( Marmota vancouverensis), housed at a quarantined breeding facility, presented for acute obtundation and vestibular ataxia. Physical examination revealed poor growth compared with littermates, poor nutritional condition, and mild dehydration. The animal's condition deteriorated over 24 hr, and it was euthanized following the development of generalized seizures. No gross abnormalities were observed upon postmortem evaluation. Histologic evaluation revealed severe, multifocal, granulomatous and lymphoplasmacytic meningoencephalomyelitis and interstitial nephritis, with intralesional, intracytoplasmic spore-filled, parasitophorous vacuoles and segmental, multi-organ, fibrinoid vasculitis (disseminated encephalitozoonosis)...
June 2018: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/29900030/primary-solitary-retro-clival-amyloidoma
#15
Julia R Schneider, Kevin Kwan, Kay O Kulason, Lukas J Faltings, Stephanie Colantonio, Scott Safir, Tina Loven, Jian Yi Li, Karen S Black, B Todd Schaeffer, Mark B Eisenberg
Background: Amyloidosis encompasses a group of disorders sharing the common feature of intercellular deposition of amyloid protein by several different pathogenetic mechanisms. Primary solitary amyloidosis, or amyloidoma, is a rare subset of amyloidosis in which amyloid deposition is focal and not secondary to a systemic process or plasma cell dyscrasia. Case Description: This 84-year-old female presented with history of multiple syncopal episodes, dysphagia, and ataxia...
2018: Surgical Neurology International
https://www.readbyqxmd.com/read/29899559/targeting-atr-in-cancer
#16
REVIEW
Emilio Lecona, Oscar Fernandez-Capetillo
The chemical treatment of cancer started with the realization that DNA damaging agents such as mustard gas present notable antitumoural properties. Consequently, early drug development focused on genotoxic chemicals, some of which are still widely used in the clinic. However, the efficacy of such therapies is often limited by the side effects of these drugs on healthy cells. A refinement to this approach is to use compounds that can exploit the presence of DNA damage in cancer cells. Given that replication stress (RS) is a major source of genomic instability in cancer, targeting the RS-response kinase ataxia telangiectasia and Rad3-related protein (ATR) has emerged as a promising alternative...
June 13, 2018: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/29898895/identification-of-cardioprotective-drugs-by-medium-scale-in-vivo-pharmacological-screening-on-a-drosophila-cardiac-model-of-friedreich-s-ataxia
#17
Amandine Palandri, Elodie Martin, Maria Russi, Michael Rera, Hervé Tricoire, Véronique Monnier
Friedreich's ataxia (FA) is caused by reduced levels of frataxin, a highly conserved mitochondrial protein. There is currently no effective treatment for this disease, characterized by progressive neurodegeneration and cardiomyopathy, the latter being the most common cause of death in patients. We previously developed a Drosophila melanogaster cardiac model of FA, in which the fly frataxin is inactivated specifically in the heart, leading to heart dilatation and impaired systolic function. Methylene Blue (MB) was highly efficient to prevent these cardiac dysfunctions...
June 13, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29898404/uchl3-regulates-topoisomerase-induced-chromosomal-break-repair-by-controlling-tdp1-proteostasis
#18
Chunyan Liao, Ryan Beveridge, Jessica J R Hudson, Jacob D Parker, Shih-Chieh Chiang, Swagat Ray, Mohamed E Ashour, Ian Sudbery, Mark J Dickman, Sherif F El-Khamisy
Genomic damage can feature DNA-protein crosslinks whereby their acute accumulation is utilized to treat cancer and progressive accumulation causes neurodegeneration. This is typified by tyrosyl DNA phosphodiesterase 1 (TDP1), which repairs topoisomerase-mediated chromosomal breaks. Although TDP1 levels vary in multiple clinical settings, the mechanism underpinning this variation is unknown. We reveal that TDP1 is controlled by ubiquitylation and identify UCHL3 as the deubiquitylase that controls TDP1 proteostasis...
June 12, 2018: Cell Reports
https://www.readbyqxmd.com/read/29898036/role-of-non-coding-rnas-in-non-aging-related-neurological-disorders
#19
A S Vieira, D B Dogini, I Lopes-Cendes
Protein coding sequences represent only 2% of the human genome. Recent advances have demonstrated that a significant portion of the genome is actively transcribed as non-coding RNA molecules. These non-coding RNAs are emerging as key players in the regulation of biological processes, and act as "fine-tuners" of gene expression. Neurological disorders are caused by a wide range of genetic mutations, epigenetic and environmental factors, and the exact pathophysiology of many of these conditions is still unknown...
June 11, 2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29897878/model-construction-of-niemann-pick-type-c-disease-in-zebrafish
#20
Yusheng Lin, Xiaolian Caia, Guiping Wang, Gang Ouyang, Hong Cao
Niemann-Pick Type C disease (NPC) is a rare human disease, with limited effective treatment options. Most cases of NPC disease are associated with inactivating mutations of the NPC1 gene. However, cellular and molecular mechanisms responsible for the NPC1 pathogenesis remain poorly defined. This is partly due to the lack of a suitable animal model to monitor the disease progression. In this study, we used CRISPR to construct an NPC1-/- zebrafish model, which faithfully reproduced the cardinal pathological features of this disease...
June 1, 2018: Biological Chemistry
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