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https://www.readbyqxmd.com/read/29054771/spinal-cavernous-angioma-associated-with-klippel-trenaunay-weber-syndrome-a-case-report-and-literature-review
#1
Kazunori Oda, Daijiro Morimoto, Kyongsong Kim, Kanako Yui, Takao Kitamura, Akio Morita
Klippel-Trenaunay-Weber syndrome (KTWS) is a rare congenital vascular disorder characterized by the classic triad of cutaneous nevi, venous varicosities, and osseous and soft tissue hypertrophy of the affected limb. Various vascular anomalies of the central nervous system have also been described in patients with this syndrome. The English-language literature to date contains six reports of associations between KTWS and spinal cord cavernous angioma (CA), but the management of these patients has not been well described...
October 17, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29053777/movement-disorders-with-neuronal-antibodies-syndromic-approach-genetic-parallels-and-pathophysiology
#2
Bettina Balint, Angela Vincent, Hans-Michael Meinck, Sarosh R Irani, Kailash P Bhatia
Movement disorders are a prominent and common feature in many autoantibody-associated neurological diseases, a group of potentially treatable conditions that can mimic infectious, metabolic or neurodegenerative disease. Certain movement disorders are likely to associate with certain autoantibodies; for example, the characteristic dyskinesias, chorea and dystonia associated with NMDAR antibodies, stiff person spectrum disorders with GAD, glycine receptor, amphiphysin or DPPX antibodies, specific paroxysmal dystonias with LGI1 antibodies, and cerebellar ataxia with various anti-neuronal antibodies...
September 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053577/electrographic-changes-accompanying-recurrent-seizures-under-ketogenic-diet-treatment
#3
Chiara Lucchi, Maddalena Marchiò, Elisa Caramaschi, Carmela Giordano, Rocco Giordano, Azzurra Guerra, Giuseppe Biagini
The ketogenic diet (KD) is increasingly used to treat epilepsy refractory to antiepileptic drugs and other neurological disorders. In animal models, the KD was found to increase the threshold to seizures induced by different convulsive stimulations. However, in models in which suprathreshold stimuli were used, a paradoxical seizure worsening was consistently observed in KD-fed animals. To better define this phenomenon, we characterized the electrographic response to seizures induced in mice which were treated with the KD, and then corneally stimulated at 6-Hz in four different sessions...
October 20, 2017: Pharmaceuticals
https://www.readbyqxmd.com/read/29051910/cednik-phenotypic-and-molecular-characterization-of-an-additional-patient-and-review-of-the-literature
#4
Tina Hsu, Carrie C Coughlin, Kristin G Monaghan, Elise Fiala, Robert C McKinstry, Alex R Paciorkowski, Marwan Shinawi
Synaptosomal-associated protein 29 (SNAP29) is a t-SNARE protein that is implicated in intracellular vesicle fusion. Mutations in the SNAP29 gene have been associated with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK). In patients with 22q11.2 deletion syndrome, mutations in SNAP29 on the nondeleted chromosome are linked to similar ichthyotic and neurological phenotypes. Here, the authors report a patient with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome who presented with global developmental delay, polymicrogyria, dysgenesis of the corpus callosum, optic nerve dysplasia, gaze apraxia, and dysmorphic features...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29050935/the-l1-adhesion-molecule-normalizes-neuritogenesis-in-rett-syndrome-derived-neural-precursor-cells
#5
Myungsik Yoo, Cassiano Carromeu, Ohyoon Kwon, Alysson Muotri, Melitta Schachner
Therapeutic intervention is an important need in ameliorating the severe consequences of Rett Syndrome (RTT), a neurological disorder caused by mutations in the X-linked gene methyl-CpG-binding protein-2 (MeCP2). Following previously observed morphological defects in induced pluripotent stem cell (iPSC)-derived neurons obtained from female RTT patients, we hypothesized transfection with the L1 cell adhesion molecule (L1) could contribute to normalizing a pathological male cell system bearing a nonsense mutation of MeCP2...
October 16, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29050700/the-what-when-and-how-of-car-t-cell-therapy-for-all
#6
REVIEW
Noelle Frey
Chimeric Antigen Receptor (CAR) T cells that have been engineered to target CD19 have shown great promise in patients with relapsed and refractory B cell acute lymphocytic leukemia with remission rates of 70-90%. Some remissions have successfully bridged patients to a curable allogeneic stem cell transplant, some responses have been durable without further treatment, and some patients have achieved durable remissions for relapsed ALL after allogeneic stem cell transplant. Cytokine release syndrome, correlating with the in vivo activation and expansion of T cells, and neurologic toxicity are the most significant side effects and approaches to better understand and manage these events are the subject of ongoing clinical trials...
September 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29050535/antiphospholipid-antibodies-and-non-thrombotic-manifestations-of-systemic-lupus-erythematosus
#7
U İlgen, M E Yayla, A Ateş, İ E Okatan, E U Yurteri, M Torgutalp, A B D Keleşoğlu, T M Turgay, G Kınıklı
Objectives The aim of this study was to investigate the association between antiphospholipid antibodies and non-thrombotic and non-gestational manifestations of systemic lupus erythematosus. Methods Systemic lupus erythematosus patients with persistently positive antiphospholipid antibodies or lupus anticoagulant were identified and grouped as systemic lupus erythematosus with antiphospholipid syndrome (SLE-APS), systemic lupus erythematosus with positive antiphospholipid antibodies/lupus anticoagulant without antiphospholipid syndrome (SLE-aPL), and systemic lupus erythematosus with negative aPLs (SLE-No aPL)...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#8
Steffen Syrbe, Frederike L Harms, Elena Parrini, Martino Montomoli, Ulrike Mütze, Katherine L Helbig, Tilman Polster, Beate Albrecht, Ulrich Bernbeck, Ellen van Binsbergen, Saskia Biskup, Lydie Burglen, Jonas Denecke, Bénédicte Heron, Henrike O Heyne, Georg F Hoffmann, Frauke Hornemann, Takeshi Matsushige, Ryuki Matsuura, Mitsuhiro Kato, G Christoph Korenke, Alma Kuechler, Constanze Lämmer, Andreas Merkenschlager, Cyril Mignot, Susanne Ruf, Mitsuko Nakashima, Hirotomo Saitsu, Hannah Stamberger, Tiziana Pisano, Jun Tohyama, Sarah Weckhuysen, Wendy Werckx, Julia Wickert, Francesco Mari, Nienke E Verbeek, Rikke S Møller, Bobby Koeleman, Naomichi Matsumoto, William B Dobyns, Domenica Battaglia, Johannes R Lemke, Kerstin Kutsche, Renzo Guerrini
De novo in-frame deletions and duplications in the SPTAN1 gene, encoding the non-erythrocyte αII spectrin, have been associated with severe West syndrome with hypomyelination and pontocerebellar atrophy. We aimed at comprehensively delineating the phenotypic spectrum associated with SPTAN1 mutations. Using different molecular genetic techniques, we identified 20 patients with a pathogenic or likely pathogenic SPTAN1 variant and reviewed their clinical, genetic and imaging data. SPTAN1 de novo alterations included seven unique missense variants and nine in-frame deletions/duplications of which 12 were novel...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050391/psychogenic-amnesia-syndromes-outcome-and-patterns-of-retrograde-amnesia
#9
Neil A Harrison, Kate Johnston, Federica Corno, Sarah J Casey, Kimberley Friedner, Kate Humphreys, Eli J Jaldow, Mervi Pitkanen, Michael D Kopelman
There are very few case series of patients with acute psychogenic memory loss (also known as dissociative/functional amnesia), and still fewer studies of outcome, or comparisons with neurological memory-disordered patients. Consequently, the literature on psychogenic amnesia is somewhat fragmented and offers little prognostic value for individual patients. In the present study, we reviewed the case records and neuropsychological findings in 53 psychogenic amnesia cases (ratio of 3:1, males:females), in comparison with 21 consecutively recruited neurological memory-disordered patients and 14 healthy control subjects...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049232/case-report-central-nervous-system-involvement-of-human-graft-versus-host-disease-report-of-7-cases-and-a-review-of-literature
#10
Mathilde Ruggiu, Wendy Cuccuini, Karima Mokhtari, Véronique Meignin, Régis Peffault de Latour, Marie Robin, Flore Sicre de Fontbrune, Aliénor Xhaard, Gérard Socié, David Michonneau
RATIONALE: Central nervous system (CNS) involvement of graft versus host disease (GvHD) is a rare cause of CNS disorders after allogeneic hematopoietic stem cell transplantation (allo-HSCT). Chronic CNS GvHD symptoms are heterogeneous and include cerebrovascular manifestations, demyelinating disease and immune-mediated encephalitis. CNS-Acute GvHD is not formally defined in literature. PATIENTS CONCERNS AND DIAGNOSES: We report 7 cases of CNS-GvHD among which two had histological-proven disease...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29049144/the-etiology-of-neuronal-development-in-craniosynostosis-a-working-hypothesis
#11
Eric D Brooks, Joel S Beckett, Jenny Yang, Andrew T Timberlake, Alexander H Sun, Carolyn Chuang, John A Persing
Craniosynostosis is one of the most common craniofacial conditions treated by neurologic and plastic surgeons. In addition to disfigurement, children with craniosynostosis experience significant cognitive dysfunction later in life. Surgery is performed in infancy to correct skull deformity; however, the field is at a crossroads regarding the best approach for correction. Since the cause of brain dysfunction in these patients has remained uncertain, the role and type of surgery might have in attenuating the later-observed cognitive deficits through impact on the brain has been unclear...
October 18, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29048107/lenalidomide-and-dexamethasone-in-patients-with-poems-syndrome-results-of-a-prospective-open-label-trial
#12
Andrea Nozza, Fabrizia Terenghi, Francesca Gallia, Fausto Adami, Chiara Briani, Giampaolo Merlini, Laura Giordano, Armando Santoro, Eduardo Nobile-Orazio
Given its anti-angiogenic activity, lenalidomide may have a role in the treatment of POEMS (Peripheral neuropathy, Organomegaly, Endocrinopathy, Monoclonal plasma cell disorder and Skin changes) syndrome. This prospective, open-label, pilot study evaluated the combination of lenalidomide + dexamethasone (RD) in 18 POEMS syndrome patients (13 pre-treated, 5 newly-diagnosed but ineligible for high-dose therapy). Treatment consisted of six cycles of lenalidomide (25 mg/day for 21 days followed by 7 days rest) plus dexamethasone (40 mg/once a week)...
October 19, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29047041/a-profound-computational-study-to-prioritize-the-disease-causing-mutations-in-prps1-gene
#13
Ashish Kumar Agrahari, P Sneha, C George Priya Doss, R Siva, Hatem Zayed
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited congenital neurological disorders, affecting approximately 1 in 2500 in the US. About 80 genes were found to be in association with CMT. The phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an essential enzyme in the primary stage of de novo and salvage nucleotide synthesis. The mutations in the PRPS1 gene leads to X-linked Charcot-Marie-Tooth neuropathy type 5 (CMTX5), PRS super activity, Arts syndrome, X-linked deafness-1, breast cancer, and colorectal cancer...
October 18, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29047014/a-callosal-catastrophe-toxic-leukoencephalopathy-associated-with-thermogenic-weight-loss-supplement-use
#14
Zakraus K Mahdavi, Ram Narayan, Shraddha Mainali, Benjamin M Greenberg, Venkatesh Aiyagari, David L McDonagh
BACKGROUND: The use of weight loss drugs and dietary supplements is common, but safety profiles for these drugs are largely unknown. Reports of toxicity have been published, and the use of these agents should be considered in clinical differential diagnoses. METHODS: We report the case of a patient with toxic leukoencephalopathy and hyponatremia associated with oral consumption of a thermogenic dietary supplement and essential oils. RESULTS: A 30-year-old woman presented after 2 days of headache, blurred vision, photophobia, vomiting, and hand spasms...
October 18, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/29046872/swallow-breath-interaction-and-phase-of-respiration-with-swallow-during-non-nutritive-suck-in-infants-affected-by-neonatal-abstinence-syndrome
#15
Eric W Reynolds, Debbie Grider, Cynthia S Bell
BACKGROUND: The development of suck-swallow-breath rhythms during non-nutritive suck (NNS) may be an indicator of neurologic integrity. We have described swallow-breath (SwBr) interaction and phase of respiration (POR) with swallow during NNS in low-risk preterm (LRP) infants. NNS in infants with neonatal abstinence syndrome (NAS) has not been described with our method. METHOD: Suckle, swallow, thoracic motion, and nasal airflow were measured during NNS in 10 infants with NAS and 12 unaffected infants (control)...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29046759/copper-deficiency-a-new-triad-anemia-leucopenia-and-myeloneuropathy
#16
Shoaib M Wazir, Ibrahim Ghobrial
Clinical copper deficiency is now more frequently recognized. Hematologically, it can present as anemia (microcytic, normocytic, or macrocytic) and neutropenia. Thrombocytopenia is relatively rare. Neurologically, it can manifest as myelopathy and peripheral neuropathy simulating subacute combined degeneration. Bone marrow findings can mimic myelodysplasia resulting in occasional inappropriate referral for bone marrow transplantation. Other conditions with similar presentations include infections, drug toxicity, autoimmunity, B12 deficiency, folate deficiency, myelodysplastic syndrome, aplastic anemia, and lymphoma with bone marrow involvement...
October 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29046465/-usefulness-of-bilateral-rso-sub-2-sub-monitoring-for-predicting-cerebral-hyperperfusion-syndrome-after-carotid-artery-stenting
#17
Jun Niimi, Shoichiro Ishihara, Eisuke Tsukagoshi, Hiroaki Neki, Yoshiaki Kakehi, Nahoko Uemiya, Kouji Mizokami, Hideaki Ishihara, Shinya Kohyama, Fumitaka Yamane
OBJECTIVE: Cerebral hyperperfusion syndrome(CHS)and cerebral hyperperfusion phenomenon(CHP)induce intracranial hemorrhage and can become critical complications after carotid artery stenting(CAS). The purpose of the present study was to predict and avoid CHS after CAS using bilateral rSO<sub>2</sub> intraoperative monitoring. METHODS: We retrospectively analyzed 100 consecutive patients who underwent CAS between January 2012 and May 2014 in our institution...
October 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/29044647/epilepsy-and-astrocyte-energy-metabolism
#18
Detlev Boison, Christian Steinhäuser
Epilepsy is a complex neurological syndrome characterized by neuronal hyperexcitability and sudden, synchronized electrical discharges that can manifest as seizures. It is now increasingly recognized that impaired astrocyte function and energy homeostasis play key roles in the pathogenesis of epilepsy. Excessive neuronal discharges can only happen, if adequate energy sources are made available to neurons. Conversely, energy depletion during seizures is an endogenous mechanism of seizure termination. Astrocytes control neuronal energy homeostasis through neurometabolic coupling...
October 17, 2017: Glia
https://www.readbyqxmd.com/read/29044354/protocol-for-the-evaluation-of-a-chronic-care-model-experience-in-rome
#19
D Mipatrini, A Sinopoli, C Sestili, M Di Marcoberardino, P Giuliani, G Grasso, A Lancia, E Megli, R Mete, M G Pennafina, M Pirrò, S Tartaglia, F Vero, G La Torre
INTRODUCTION: Chronic diseases are the leading cause of death and disability in almost all over the world; in Europe causing over 9 million deaths per year according to WHO estimates. A promising health organization model for chronic disease management is represented by the Chronic Care Model (CCM). In the 12th district of the ASL Roma 2 since 4 years was implemented a CCM for the management of patients affected by diabetes and/or at high cardiovascular risk. OBJECTIVE: Aim of this study is to evaluate the effectiveness of the Chronic Care Model (CCM) for the management of chronic disease in terms of mortality reduction, avoidable hospitalizations reduction and improvement of clinical parameters...
September 2017: La Clinica Terapeutica
https://www.readbyqxmd.com/read/29043143/focal-segmental-glomerulosclerosis-associated-with-mitochondrial-disease
#20
Kenneth Lim, David Steele, Andrew Fenves, Ravi Thadhani, Eliot Heher, Amel Karaa
Primary mitochondrial diseases (MD) are complex, heterogeneous inherited diseases caused by mutations in either the mitochondrial or nuclear DNA. Glomerular diseases in MD have been reported with tRNA mutation m.3243A>G causing a syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). We describe here a case of focal segmental glomerulosclerosis (FSGS) associated with a new tRNA mutation site. A 34-year-old man with a history of living related kidney transplantation, diabetes, hearing loss, and developmental delay presented to the outpatient clinic with complaints of new behavioral difficulties, worsening symptoms, and brain involvement on imaging...
2017: Clin Nephrol Case Stud
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