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Encephalopathies

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https://www.readbyqxmd.com/read/29050398/delineating-sptan1-associated-phenotypes-from-isolated-epilepsy-to-encephalopathy-with-progressive-brain-atrophy
#1
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/29050392/clinical-spectrum-and-genotype-phenotype-associations-of-kcna2-related-encephalopathies
#2
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen Gorman, Mary D King, Nicholas M Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, Jose M Serratosa, Beatriz G Giraldez, Ingo Helbig, Eric Marsh, Margaret O'Brien, Christina A Bergqvist, Adrian Binelli, Brenda Porter, Eduardo Zaeyen, Dafne D Horovitz, Markus Wolff, Dragan Marjanovic, Hande S Caglayan, Mutluay Arslan, Sergio D J Pena, Sanjay M Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R Lemke, Rikke S Møller, Holger Lerche, Guido Rubboli
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or a gain-of-function of the voltage-gated K+ channel Kv1.2, were described to cause a new molecular entity within the epileptic encephalopathies. Here, we report a cohort of 23 patients (eight previously described) with epileptic encephalopathy carrying either novel or known KCNA2 mutations, with the aim to detail the clinical phenotype associated with each of them, to characterize the functional effects of the newly identified mutations, and to assess genotype-phenotype associations...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29049389/endemic-chronic-wasting-disease-causes-mule-deer-population-decline-in-wyoming
#3
Melia T DeVivo, David R Edmunds, Matthew J Kauffman, Brant A Schumaker, Justin Binfet, Terry J Kreeger, Bryan J Richards, Hermann M Schätzl, Todd E Cornish
Chronic wasting disease (CWD) is a fatal transmissible spongiform encephalopathy affecting white-tailed deer (Odocoileus virginianus), mule deer (Odocoileus hemionus), Rocky Mountain elk (Cervus elaphus nelsoni), and moose (Alces alces shirasi) in North America. In southeastern Wyoming average annual CWD prevalence in mule deer exceeds 20% and appears to contribute to regional population declines. We determined the effect of CWD on mule deer demography using age-specific, female-only, CWD transition matrix models to estimate the population growth rate (λ)...
2017: PloS One
https://www.readbyqxmd.com/read/29049129/transjugular-intrahepatic-portosystemic-shunt-placement-before-abdominal-intervention-in-cirrhotic-patients-with-portal-hypertension-lessons-from-a-pilot-study
#4
Nadim Fares, Marie-Angèle Robic, Jean-Marie Péron, Fabrice Muscari, Philippe Otal, Bertrand Suc, Jean-Pierre Vinel, Christophe Bureau
BACKGROUND: Abdominal interventions are usually contraindicated in patients with cirrhosis and portal hypertension because of increased morbidity and mortality. Decreasing portal pressure with transjugular intrahepatic portosystemic shunt (TIPS) may improve patient outcomes. We report our experience with patients treated by neoadjuvant TIPS to identify those who would most benefit from this two-step procedure. PATIENTS AND METHODS: All patients treated by dedicated neoadjuvant TIPS between 2005 and March 2013 in two tertiary referral hospitals were included...
October 18, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29048405/cooling-in-neonatal-hypoxic-ischemic-encephalopathy-practices-and-opinions-on-minimum-standards-in-the-state-of-california
#5
C J Wusthoff, C L Clark, H C Glass, T K Shimotake, J Schulman, S L Bonifacio
OBJECTIVE: Although hospitals increasingly offer therapeutic hypothermia (TH), there is variable implementation of related services. We assessed current practices and opinions regarding what services should be required of centers providing TH in California. STUDY DESIGN: We surveyed neonatal intensive care unit physicians statewide regarding practices and opinions about services related to TH. RESULTS: Of the 50 participating centers (47% response rate), 66% offer TH...
October 19, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29046881/nmnat3-is-protective-against-the-effects-of-neonatal-cerebral-hypoxia-ischemia
#6
Rafael Galindo, Marianne Banks Greenberg, Toshiyuki Araki, Yo Sasaki, Nehali Mehta, Jeffrey Milbrandt, David M Holtzman
OBJECTIVE: To determine whether the NAD+ biosynthetic protein, nicotinamide mononucleotide adenylyltransferase-3 (NMNAT3), is a neuroprotective inducible enzyme capable of decreasing cerebral injury after neonatal hypoxia-ischemia (H-I) and reducing glutamate receptor-mediated excitotoxic neurodegeneration of immature neurons. METHODS: Using NMNAT3-overexpressing mice we investigated whether increases in brain NMNAT3 reduced cerebral tissue loss following H-I. We then employed biochemical methods from injured neonatal brains to examine the inducibility of NMNAT3 and the mechanism of NMNAT3-dependent neuroprotection...
October 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29046760/an-atypical-subacute-presentation-of-posterior-reversible-encephalopathy-syndrome
#7
Eseosa Bazuaye-Ekwuyasi, Robert Dobbin Chow, Sarah Schmalzle
Posterior reversible encephalopathy syndrome (PRES) characteristically presents with rapid onset of headache, seizure, encephalopathy, and visual changes, along with evidence of parieto-occipital vasogenic edema on magnetic resonance imaging. We describe the case of a 41-year-old female with a protracted presentation of two of the four classic PRES symptoms, which were not immediately recognized as PRES due to the presence of multiple other comorbidities and reasons for encephalopathy. This case highlights the possibility of atypical presentations of PRES and the diagnostic challenges in making this clinical diagnosis when competing diagnoses are present...
October 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/29046443/prion-protein-devoid-of-the-octapeptide-repeat-region-delays-bse-pathogenesis-in-mice
#8
Hideyuki Hara, Hironori Miyata, Nandita Rani Das, Junji Chida, Tatenobu Yoshimochi, Keiji Uchiyama, Hitomi Watanabe, Gen Kondoh, Takashi Yokoyama, Suehiro Sakaguchi
Conformational conversion of the cellular isoform of prion protein PrP(C), into the abnormally folded, amyloidogenic isoform, PrP(Sc), is a key pathogenic event in prion diseases including Creutzfeldt-Jakob disease in humans and scrapie and bovine spongiform encephalopathy (BSE) in animals. We previously reported that the octapeptide repeat (OR) region could be dispensable for converting PrP(C) into PrP(Sc) after infection with RML prions. We demonstrated that mice transgenically expressing mouse PrP with deletion of the OR region on the PrP-knockout background, designated Tg(PrPΔOR)/Prnp(0/0) mice, did not reduce susceptibility to RML scrapie prions, with abundant accumulation of PrP(Sc)ΔOR in their brains...
October 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/29044765/a-novel-inborn-error-of-the-coenzyme-q10-biosynthesis-pathway-cerebellar-ataxia-and-static-encephalomyopathy-due-to-coq5-c-methyltransferase-deficiency
#9
May Christine V Malicdan, Thierry Vilboux, Bruria Ben-Zeev, Jennifer Guo, Aviva Eliyahu, Ben Pode-Shakked, Amir Dori, Sravan Kakani, Settara C Chandrasekharappa, Carlos Ferreira, Natalia Shelestovich, Dina Marek-Yagel, Hadass Pri-Chen, Ilan Blatt, John E Niederhuber, Langping He, Camilo Toro, Robert W Taylor, John Deeken, Tal Yardeni, Douglas C Wallace, William A Gahl, Yair Anikster
Primary coenzyme Q10 (CoQ10 ; MIM# 607426) deficiencies are an emerging group of inherited mitochondrial disorders with heterogonous clinical phenotypes. Over a dozen genes are involved in the biosynthesis of CoQ10 , and mutations in several of these are associated with human disease. However, mutations in COQ5 (MIM# 616359), catalyzing the only C-methylation in the CoQ10 synthetic pathway, have not been implicated in human disease. Here, we report three female siblings of Iraqi-Jewish descent, who had varying degrees of cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures and cognitive disability...
October 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/29044307/immune-reconstitution-inflammatory-syndrome-as-a-cause-of-autoimmune-hepatitis-and-acute-liver-failure
#10
Edison Moraes Rodrigues, Rogério Fernandes, Ruth Susin, Bárbara Fior
Acute liver failure is a rare syndrome with high mortality and is often diagnosed late. Intensivist physicians play fundamental roles in the diagnostic suspicion and the management of the multiple-organic dysfunctions characteristic of this entity. Immune reconstitution inflammatory syndrome is an entity that is characterized by the paradoxical worsening of the patient's previous condition, after the initiation of antiretrovirals, triggered against either pathogens present in the host or autoantigens. Autoimmune hepatitis has recently been described as one of these autoimmune manifestations...
July 2017: Revista Brasileira de Terapia Intensiva
https://www.readbyqxmd.com/read/29043908/early-functional-connectome-integrity-and-1-year-recovery-in-comatose-survivors-of-cardiac-arrest
#11
Haris I Sair, Yousef Hannawi, Shanshan Li, Joshua Kornbluth, Athena Demertzi, Carol Di Perri, Russell Chabanne, Betty Jean, Habib Benali, Vincent Perlbarg, James Pekar, Charles-Edouard Luyt, Damien Galanaud, Lionel Velly, Louis Puybasset, Steven Laureys, Brian Caffo, Robert D Stevens
Purpose To assess whether early brain functional connectivity is associated with functional recovery 1 year after cardiac arrest (CA). Materials and Methods Enrolled in this prospective multicenter cohort were 46 patients who were comatose after CA. Principal outcome was cerebral performance category at 12 months, with favorable outcome (FO) defined as cerebral performance category 1 or 2. All participants underwent multiparametric structural and functional magnetic resonance (MR) imaging less than 4 weeks after CA...
October 18, 2017: Radiology
https://www.readbyqxmd.com/read/29043491/the-multifactorial-origin-of-posterior-reversible-encephalopathy-syndrome-in-cyclophosphamide-treated-lupus-patients
#12
REVIEW
Tatjana Zekić, Mirjana Stanić Benić, Ronald Antulov, Igor Antončić, Srđan Novak
The cyclophosphamide as a predisposing factor for Posterior Reversible Encephalopathy Syndrome (PRES) and therapeutic option for systemic lupus erythematosus (SLE) is still confusing. The first and only case of PRES, probably induced by cyclophosphamide, in Croatia followed by the findings of 36 SLE patients diagnosed with PRES after treatment with cyclophosphamide worldwide are described. An 18-year-old Caucasian female patient with a 1-year history of SLE was admitted to the hospital due to lupus nephritis and acute arthritis...
October 17, 2017: Rheumatology International
https://www.readbyqxmd.com/read/29042902/unusual-case-of-posterior-reversible-encephalopathy-syndrome-in-a-patient-with-anti-glomerular-basement-membrane-antibody-glomerulonephritis-a-case-report-and-review-of-the-literature
#13
Boram Cha, Dae Young Kim, Hyunil Jang, Seun Deuk Hwang, Huck Jei Choi, Moon-Jae Kim
Posterior reversible encephalopathy syndrome (PRES) is characterized by a clinical and radiological entity with the sudden onset of seizures, headache, altered consciousness, and visual disturbances in patients with the findings of reversible vasogenic subcortical edema without infarction. Hypertension, renal disease, and autoimmune disease are co-morbid conditions of PRES. Nevertheless, there have only been a few case reports of PRES in a patient with anti-glomerular basement membrane antibody glomerulonephritis (anti-GBM GN)...
September 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29042869/clinical-characteristics-of-hypertensive-encephalopathy-in-pediatric-patients
#14
Chang Hoon Ahn, Seung-A Han, Young Hwa Kong, Sun Jun Kim
PURPOSE: The aim of this study was to assess the clinical characteristics of hypertensive encephalopathy according to the underlying etiologies in children. METHODS: We retrospectively evaluated 33 pediatric patients who were diagnosed as having hypertensive encephalopathy in Chonbuk National University Children's Hospital. Among the patients, 18 were excluded because of incomplete data or because brain magnetic resonance imaging (MRI) was not performed. Finally, 17 patients were enrolled and divided into a renal-origin hypertension group and a non-renal-origin hypertension group according to the underlying cause...
August 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/29042695/living-donor-liver-transplantation-for-acute-liver-failure-comparing-guidelines-on-the-prediction-of-liver-transplantation
#15
Kazuhiro Yoshida, Yuzo Umeda, Akinobu Takaki, Takeshi Nagasaka, Ryuichi Yoshida, Daisuke Nobuoka, Takashi Kuise, Kosei Takagi, Tetsuya Yasunaka, Hiroyuki Okada, Takahito Yagi, Toshiyoshi Fujiwara
Determining the indications for and timing of liver transplantation (LT) for acute liver failure (ALF) is essential. The King's College Hospital (KCH) guidelines and Japanese guidelines are used to predict the need for LT and the outcomes in ALF. These guidelines' accuracy when applied to ALF in different regional and etiological backgrounds may differ. Here we compared the accuracy of new (2010) Japanese guidelines that use a simple scoring system with the 1996 Japanese guidelines and the KCH criteria for living donor liver transplantation (LDLT)...
October 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/29042562/cis-p-tau-is-induced-in-clinical-and-preclinical-brain-injury-and-contributes-to-post-injury-sequelae
#16
Onder Albayram, Asami Kondo, Rebekah Mannix, Colin Smith, Cheng-Yu Tsai, Chenyu Li, Megan K Herbert, Jianhua Qiu, Michael Monuteaux, Jane Driver, Sandra Yan, William Gormley, Ava M Puccio, David O Okonkwo, Brandon Lucke-Wold, Julian Bailes, William Meehan, Mark Zeidel, Kun Ping Lu, Xiao Zhen Zhou
Traumatic brain injury (TBI) is characterized by acute neurological dysfunction and associated with the development of chronic traumatic encephalopathy (CTE) and Alzheimer's disease. We previously showed that cis phosphorylated tau (cis P-tau), but not the trans form, contributes to tau pathology and functional impairment in an animal model of severe TBI. Here we found that in human samples obtained post TBI due to a variety of causes, cis P-tau is induced in cortical axons and cerebrospinal fluid and positively correlates with axonal injury and clinical outcome...
October 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29042526/-differential-diagnosis-of-immune-mediated-encephalopathies-neurological-symptoms-of-diffuse-brain-damage-a-new-concept
#17
Yoshimitsu Maki, Hiroshi Takashima
In recent years, incidence of autoimmune encephalopathies has increased. The diagnosis of the severe form of autoimmune encephalopathy is not difficult; however, milder forms can be misdiagnosed as general encephalopathies. We often treat Hashimoto's encephalopathy, which has diverse clinical symptoms and is often misdiagnosed as a psychosomatic disease. We have found that the neurological findings and symptoms of patients with Hashimoto's encephalopathy are similar to those of psychogenic diseases, such as giveway weakness and atypical sensory disorder...
October 2017: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/29040524/potentiation-of-excitatory-synaptic-transmission-ameliorates-aggression-in-mice-with-stxbp1-haploinsufficiency
#18
Hiroyuki Miyamoto, Atsushi Shimohata, Manabu Abe, Teruo Abe, Emi Mazaki, Kenji Amano, Toshimitsu Suzuki, Tetsuya Tatsukawa, Shigeyoshi Itohara, Kenji Sakimura, Kazuhiro Yamakawa
Genetic studies point to a major role of de novo mutations in neurodevelopmental disorders of intellectual disability, autism spectrum disorders, and epileptic encephalopathy. The STXBP1 gene encodes the syntaxin-binding protein 1 (Munc18-1) that critically controls synaptic vesicle exocytosis and synaptic transmission. This gene harbors a high frequency of de novo mutations, which may play roles in these neurodevelopmental disorders. However, the system and behavioral-level pathophysiological changes caused by these genetic defects remain poorly understood...
October 11, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29038971/the-implementation-of-targeted-temperature-management-an-evidence-based-guideline-from-the-neurocritical-care-society
#19
Lori Kennedy Madden, Michelle Hill, Teresa L May, Theresa Human, Mary McKenna Guanci, Judith Jacobi, Melissa V Moreda, Neeraj Badjatia
BACKGROUND: Targeted temperature management (TTM) is often used in neurocritical care to minimize secondary neurologic injury and improve outcomes. TTM encompasses therapeutic hypothermia, controlled normothermia, and treatment of fever. TTM is best supported by evidence from neonatal hypoxic-ischemic encephalopathy and out-of-hospital cardiac arrest, although it has also been explored in ischemic stroke, traumatic brain injury, and intracranial hemorrhage patients. Critical care clinicians using TTM must select appropriate cooling techniques, provide a reasonable rate of cooling, manage shivering, and ensure adequate patient monitoring among other challenges...
October 16, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/29038875/sclerotherapy-for-rectal-varices-by-a-small-bore-needle-puncture-through-the-greater-sciatic-foramen
#20
Shuji Kariya, Miyuki Nakatani, Takuji Maruyama, Yasuyuki Ono, Yutaka Ueno, Hiroshi Shimizu, Atsushi Komemushi, Noboru Tanigawa
PURPOSE: To report a sclerotherapy technique for rectal varices consisting of direct puncture of the superior rectal vein with a small-bore sheathed needle via the greater sciatic foramen without insertion of a sheath or catheter. MATERIALS AND METHODS: The subjects of this retrospective study were three consecutive patients who underwent embolization of rectal varices, two for rupture of rectal varices and one for hepatic encephalopathy and hyperammonemia. A 5% solution of ethanolamine oleate with iodinated contrast agent (5% EOI) was injected through puncture of the superior rectal vein and carried in the blood flow, after which n-butyl cyanoacrylate mixed with lipiodol (NBCA-Lip) was immediately injected to stop the blood flow...
October 16, 2017: Cardiovascular and Interventional Radiology
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