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https://www.readbyqxmd.com/read/28628467/juvenile-and-adult-onset-systemic-lupus-erythematosus-a-comparative-study-in-a-large-cohort-from-the-spanish-society-of-rheumatology-lupus-registry-relesser
#1
Vicenç Torrente-Segarra, Tarek Carlos Salman Monte, Iñigo Rúa-Figueroa, Fernando Sánchez-Alonso, Francisco Javier López-Longo, María Galindo-Izquierdo, Jaime Calvo-Alén, Alejandro Olivé-Marqués, Jesús Ibañez-Ruán, Loreto Horcada, Ana Sánchez-Atrio, Carlos Montilla, Rafael Benito Melero González, Elvira Díez-Álvarez, Victor Martinez-Taboada, José Luis Andreu, Olaia Fernández-Berrizbeitia, José Ángel Hernández-Beriain, Marian Gantes, Blanca Hernández-Cruz, Ángela Pecondón-Español, Carlos Marras, Gema Bonilla, José M Pego-Reigosa
OBJECTIVES: We aimed to describe juvenile-onset systemic lupus erythematosus (jSLE) features and to establish its differences compared to adult-onset SLE (aSLE) from a large national database. METHODS: Data from patients (≥4 ACR criteria) included in Spanish Society of Rheumatology Lupus Registry (RELESSER) were analysed. Sociodemographic, clinical, serological, activity, treatment, cumulative damage, comorbidities and severity data were collected. Patients with disease onset <18 years were described and compared to those with disease onset ≥18 years...
June 12, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28628018/autoimmune-limbic-encephalitis-case-reports
#2
K Kobaidze, A Harrison, Y Burklin, V Patidar, M Riccardi
Limbic encephalitis (LE) is an autoimmune or paraneoplastic disease that affects the medial temporal lobes. The patient will usually present with cognitive impairment, psychiatric changes, and seizures. Autoimmune limbic encephalitis (LE) is a challenging diagnosis as it is not always included in the typical paraneoplastic/autoimmune panels. Anti-GAD antibodies are associated with various disease including type I diabetes mellitus, various autoimmune processes, some neoplastic and infectious diseases. Thus, it is not as specific as some of the antibodies causing LE...
May 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28615895/study-of-refractory-status-epilepticus-from-a-tertiary-care-center
#3
Sahil Kohli, Suresh Babu Pasangulapati, Sangeetha Yoganathan, Gideon Lyngsyun Rynjah, A T Prabhakar, Sanjith Aaron, Mathew Alexander, Vivek Mathew
OBJECTIVES: To determine the proportion of refractory status epilepticus (RSE) and super-RSE (SRSE) among patients with status epilepticus (SE) and to analyze RSE and non-RSE (NRSE) in terms of etiology and predictors for RSE. MATERIALS AND METHODS: Patients were identified from discharge summaries database with keywords of SE and records of the portable electroencephalogram (EEG) machine from January 2011 to March 2016. RESULTS: Two hundred and eighteen events were included in the study with 114 (52...
April 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28614301/microglia-dependent-synapse-loss-in-type-i-interferon-mediated-lupus
#4
Allison R Bialas, Jessy Presumey, Abhishek Das, Cees E van der Poel, Peter H Lapchak, Luka Mesin, Gabriel Victora, George C Tsokos, Christian Mawrin, Ronald Herbst, Michael C Carroll
Systemic lupus erythematosus (SLE) is an incurable autoimmune disease characterized by autoantibody deposition in tissues such as kidney, skin and lungs. Notably, up to 75% of patients with SLE experience neuropsychiatric symptoms that range from anxiety, depression and cognitive impairment to seizures and, in rare cases, psychosis-collectively this is referred to as central nervous system (CNS) lupus. In some cases, certain autoantibodies, such as anti-NMDAR or anti-phospholipid antibodies, promote CNS lupus...
June 14, 2017: Nature
https://www.readbyqxmd.com/read/28607558/hashimoto-s-encephalopathy-presenting-with-unusual-behavioural-disturbances-in-an-adolescent-girl
#5
Murugan Selvaraj Karthik, Kulothungan Nandhini, Viswanath Subashini, Ramasamy Balakrishnan
Hashimoto's encephalopathy (HE) is a rare autoimmune disorder with neurological and neuropsychiatric manifestations and elevated titres of anti-thyroid antibodies. Here we are reporting a case of HE in a 19-year-old girl who presented with seizure-like episodes, confusion, and behavioural disturbances with catatonic symptoms such as posturing, echopraxia, echolalia, and ambivalence. Patient did not respond to antipsychotics and anticonvulsants. On further investigation, patient was found to have high serum anti-TPO antibodies of about 1261 U/mL with euthyroid status, which supported a suspicion of HE...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28584608/super-refractory-status-epilepticus-in-hashimoto-s-encephalopathy
#6
Mujahid Al-Busaidi, Jyoti Burad, Asma Al-Belushi, Arun Gujjar
We present a case of a 38-year-old woman who was at eight weeks of gestation and was admitted to Sultan Qaboos University Hospital with refractory status epilepticus (SE). She presented with a two-day history of fever and a depressed level of consciousness that was followed with generalized tonic-clonic seizures. She progressed to refractory SE that required intubation and mechanical ventilation. Autoimmune workup was suggestive of Hashimoto's encephalopathy (HE) as suggested by the high levels of thyroid antibodies...
May 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28572051/late-onset-rasmussen-encephalitis-a-literature-appraisal
#7
REVIEW
Sophie Dupont, Ana Gales, Serge Sammey, Marie Vidailhet, Virginie Lambrecq
Rasmussen Encephalitis (RE) is classically described as a childhood encephalopathy due to a unilateral inflammation of the cerebral cortex with a presumed immune-mediated pathophysiological basis. Unusual variant forms, including adolescent and adult-onset RE have been described but there is still a doubt whether these atypical cases correspond to classical RE patients. To review evidence, a systematic PubMed search was conducted to retrieve papers addressing late onset RE to assess (i) the positivity rate of classical childhood-onset diagnostic criteria for RE in late-onset RE, (ii) the specific clinical and radiological features that could help earlier diagnosis and therapeutic interventions, (iii) the arguments for an autoimmune pathophysiology including (iiia) the association with autoimmune markers or diseases and (iiib) the effects of immunomodulatory or immunosuppressive treatments...
May 29, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28567288/gad-antibody-associated-limbic-encephalitis-in-a-young-woman-with-apeced
#8
Anna Kopczak, Adrian-Minh Schumacher, Sandra Nischwitz, Tania Kümpfel, Günter K Stalla, Matthias K Auer
The autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome is a genetic disorder caused by a mutation in the autoimmune regulator (AIRE) gene. Immune deficiency, hypoparathyroidism and Addison's disease due to autoimmune dysfunction are the major clinical signs of APECED. We report on a 21-year-old female APECED patient with two inactivating mutations in the AIRE gene. She presented with sudden onset of periodic nausea. Adrenal insufficiency was diagnosed by means of the ACTH stimulation test...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28559946/f-18-fdg-pet-findings-for-vogt-koyanagi-harada-disease
#9
Hye Lim Park, Ie Ryung Yoo, Sonya Youngju Park
Vogt-Koyanagi-Harada disease is a rare multisystemic granulomatous autoimmune disorder affecting pigmented tissues such as the choroid, meninges, inner ear, and the skin. Neurologic symptoms are usually mild. Clinical manifestations include generalized muscle weakness, headache, meningismus, vertigo, decreased visual acuity, hearing loss and mental changes ranging from mild confusion to psychosis, hemiparesis, dysarthria, and aphasia. Seizures are very rare. We describe a case of (18)F-fluorodeoxyglucose (F-18 FDG) positron emission tomography (PET) and software-fused PET-magnetic resonance imaging (MRI) in Vogt-Koyanagi-Harada disease with seizure...
June 2017: Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28556688/severe-and-rapidly-progressive-lafora-disease-associated-with-nhlrc1-mutation-a-case-report
#10
Sara Casciato, Stefano Gambardella, Addolorata Mascia, Pier Paolo Quarato, Alfredo D'Aniello, Yana Ackurina, Veronica Albano, Francesco Fornai, Simona Scala, Giancarlo Di Gennaro
Lafora disease (LD), also known as progressive myoclonic epilepsy-2 (EPM2), is a rare, fatal autosomal recessive disorder typically starting during adolescence in otherwise neurologically normal individuals. It is clinically characterized by insidious of progressive neurological features including seizures, action myoclonus, visual hallucination, ataxia and dementia. Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. Diagnostic workup includes genetic analysis as well as axillary skin biopsy with evidence of typical periodic acid-Schiff (PAS)-positive polyglucosan inclusion bodies (Lafora bodies) in the apocrine glands and/or in the eccrine duct...
June 12, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28555833/predictive-models-in-the-diagnosis-and-treatment-of-autoimmune-epilepsy
#11
Divyanshu Dubey, Jaysingh Singh, Jeffrey W Britton, Sean J Pittock, Eoin P Flanagan, Vanda A Lennon, Jan-Mendelt Tillema, Elaine Wirrell, Cheolsu Shin, Elson So, Gregory D Cascino, Dean M Wingerchuk, Matthew T Hoerth, Jerry J Shih, Katherine C Nickels, Andrew McKeon
OBJECTIVE: To validate predictive models for neural antibody positivity and immunotherapy response in epilepsy. METHODS: We conducted a retrospective study of epilepsy cases at Mayo Clinic (Rochester-MN; Scottsdale-AZ, and Jacksonville-FL) in whom autoimmune encephalopathy/epilepsy/dementia autoantibody testing profiles were requested (06/30/2014-06/30/2016). An Antibody Prevalence in Epilepsy (APE) score, based on clinical characteristics, was assigned to each patient...
May 26, 2017: Epilepsia
https://www.readbyqxmd.com/read/28554330/rho-associated-protein-kinase-2-rock2-a-new-target-of-autoimmunity-in-paraneoplastic-encephalitis
#12
Stoyan Popkirov, Ilya Ayzenberg, Stefanie Hahn, Jan Bauer, Yvonne Denno, Nicole Rieckhoff, Christiane Radzimski, Volkmar H Hans, Sebastian Berg, Florian Roghmann, Joachim Noldus, Christian G Bien, Sabine Skodda, Jörg Wellmer, Winfried Stöcker, Christos Krogias, Ralf Gold, Uwe Schlegel, Christian Probst, Lars Komorowski, Ramona Miske, Ingo Kleiter
Onconeural antibodies are associated with cancer and paraneoplastic encephalitis. While their pathogenic role is still largely unknown, their high diagnostic value is undisputed. In this study we describe the discovery of a novel target of autoimmunity in an index case of paraneoplastic encephalitis associated with urogenital cancer.A 75-year-old man with a history of invasive bladder carcinoma 6 years ago with multiple recurrences and a newly discovered renal cell carcinoma presented with seizures and progressive cognitive decline followed by super-refractory status epilepticus...
May 29, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28545782/autoimmune-encephalopathy-for-psychiatrists-when-to-suspect-autoimmunity-and-what-to-do-next
#13
REVIEW
Mark Oldham
OBJECTIVE: To provide a critical review of autoimmune encephalopathy-broadly defined as neuropsychiatric features directly related to an autoimmune process-relevant for psychiatric practice. METHODS: We consulted rheumatology textbooks to define the scope of autoimmune conditions and identified recent reviews of rheumatic conditions, autoimmune vasculitis, and autoimmune encephalitis. We integrated these with primary reports to provide a clinically relevant overview of autoimmune encephalopathy...
May 2017: Psychosomatics
https://www.readbyqxmd.com/read/28544133/autoimmune-encephalitis-associated-with-voltage-gated-potassium-channels-complex-and-leucine-rich-glioma-inactivated-1-antibodies-a-national-cohort-study
#14
M Celicanin, M Blaabjerg, C Maersk-Moller, S Beniczky, L Marner, C Thomsen, F W Bach, D Kondziella, H Andersen, F Somnier, Z Illes, L H Pinborg
BACKGROUND AND PURPOSE: The aim of this study was to describe clinical and paraclinical characteristics of all Danish patients who tested positive for anti-voltage-gated potassium channels (VGKC)-complex, anti-leucine-rich glioma-inactivated 1 (LGI1) and anti-contactin-associated protein-2 antibodies in the serum/cerebrospinal fluid between 2009 and 2013 with follow-up interviews in 2015 and 2016. METHODS: We evaluated antibody status, symptoms leading to testing, course of disease, suspected diagnosis and time of admission as well as diagnosis and treatment...
May 25, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28539550/a-retrospective-analysis-of-7-cases-of-familial-mediterranean-fever
#15
Chie Ogita, Kiyoshi Matsui, Dai Kisida, Masahide Yazaki, Akinori Nakamura, Satosi Kaku, Hidehiko Makino, Rei Tadokoro, Kouta Azuma, Kazuyuki Tsuboi, Mei Tani, Masao Tamura, Takahiro Yoshikawa, Mai Morimoto, Aki Nishioka, Masahiro Sekiguchi, Naoto Azuma, Masayasu Kitano, Shinichiro Tsunoda, Hideaki Sawai, Hajime Sano
BACKGROUND: Familial mediterranean fever (FMF) is a single inherited autoinflammatory disease characterized by periodic fever with relatively short duration of 1 to 3 days and sterile serositis. Although the prevalence rate is highest in the Mediterranean coastal area, a large number of cases have been reported recently by genetic analysis by identification of MEFV (Mediterranean fever) which is responsible gene in Japan too. In outpatient department of rheumatology, diagnosis and treatment of FMF is performed in cases where fever and abdominal pain attack are repeated for a short period of time...
2017: Nihon Rinshō Men'eki Gakkai Kaishi, Japanese Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28528202/microrna-129-5p-inhibits-the-development-of-autoimmune-encephalomyelitis-related-epilepsy-by-targeting-hmgb1-through-the-tlr4-nf-kb-signaling-pathway
#16
Ai-Hua Liu, Ya-Ting Wu, Yu-Ping Wang
The study aimed to explore the effects of microRNA-129-5p (miR-129-5p) on the development of autoimmune encephalomyelitis (AE)-related epilepsy by targeting HMGB1 through the TLR4/NF-kB signaling pathway in a rat model. AE-related epilepsy models were established. Sprague-Dawley (SD) rats were randomly divided into control, model, miR-129-5p mimics, miR-129-5p inhibitor, HMGB1 shRNA, TLR4/NF-kB (TLR4/NF-kB signaling pathway was inhibited) and miR-129-5p mimics+HMGB1 shRNA groups respectively. Latency to a first epilepsy seizure attack was recorded...
May 17, 2017: Brain Research Bulletin
https://www.readbyqxmd.com/read/28527262/-autoimmune-encephalitis-associated-to-antibodies-against-the-n-methyl-d-aspartate-receptor-report-of-two-cases
#17
José Bustos, Yasmin Sánchez, Jhon Medina, Rommy Olivieri, Julián Mojica, Johan Ortiz
Anti-N-methyl-D-aspartate receptor encephalitis is a neurological syndrome that is more common in young women and is often associated with ovarian teratoma. It is characterized by acute general unspecific symptoms that evolve to neurological deterioration, psychosis and seizures. In its more advanced stage it is associated with abnormal movements and dysautonomia.We report two cases in women of 23 and 12 years of age. Given its low incidence, we present the clinical exercise that led to their diagnoses and the treatment options employed...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28526593/cardiac-tamponade-as-an-initial-presentation-for-systemic-lupus-erythematosus
#18
William Li, Thomas Frohwein, Kenneth Ong
Systemic lupus erythematosus (SLE) is a chronic autoimmune inflammatory disease which follows a relapsing and remitting course that can manifest in any organ system. While classic manifestations consist of arthralgia, myalgia, frank arthritis, a malar rash and renal failure to name a few, cardiac tamponade, however, is a far less common and far more dangerous presentation. We highlight the case of a 61year-old male with complaints of acute onset shortness of breath and generalized body aches associated with a fever and chills in the ER...
April 29, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28506504/anti-n-methyl-d-aspartate-receptor-encephalitis-appearing-as-a-new-onset-psychosis-disease-course-in-children-and-adolescents-within-the-california-encephalitis-project
#19
Mary Gable, Carol Glaser
BACKGROUND: Given that psychiatric symptoms are common, not only during the course of the illness but also on presentation, in children and adolescents with anti-N-methyl-d-aspartate receptor encephalitis, it is important that practitioners possess an adequate understanding of the clinical features and potential treatment of this disease. We describe the clinical characteristics of 24 patients who presented to the California Encephalitis Project. METHODS: Patients were referred by physicians, and standardized forms were used to gather demographic, clinical, and laboratory data...
July 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28476644/autoantibody-mediated-diseases-of-the-cns-structure-dysfunction-and-therapy
#20
REVIEW
James Varley, Jennifer Taylor, Sarosh R Irani
The field of neuronal autoantibody associated diseases of the central nervous system has expanded dramatically in the last few years. The range of identified neuronal and glial antibody targets has led to the accurate classification of a number of syndromes which each associate with characteristic clinical features. These diseases are especially important due to their frequent response to immunotherapies. Antibodies against the N-methyl, d-aspartate receptor (NMDAR) and leucine-rich glioma inactivated 1 (LGI1) are the commonest autoantibodies known in patients with autoimmune forms of encephalitis...
May 3, 2017: Neuropharmacology
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