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https://read.qxmd.com/read/37461148/the-effect-of-double-filtration-plasmapheresis-and-corticosteroids-on-patients-with-anti-dipeptidyl-peptidase-like-protein-6-encephalitis
#21
JOURNAL ARTICLE
Wenbin Wan, Yuanmei Pan, Ying Chen, Shuwei Bai, Xiaoying Yao, Yan Lin, Jun Wu, Liping Ni, Yufang Mei, Huiying Qiu, Yan Zhou, Yong Hao, Yangtai Guan
INTRODUCTION: Anti-dipeptidyl-peptidase-like protein 6 (DPPX) encephalitis is a rare condition with varied symptoms including gastrointestinal issues, weight loss, cognitive and mental dysfunction, and hyperexcitability of the central nervous system. METHODS: We studied five patients with anti-DPPX encephalitis who received immunotherapy, specifically DFPP, at our hospital. We analyzed their clinical symptoms, lab results, electrophysiological and imaging findings, and outcomes with immunotherapy...
February 2024: Therapeutic Apheresis and Dialysis
https://read.qxmd.com/read/37460234/pearls-oy-sters-atx-fgf14-mimicking-autoimmune-pathology
#22
JOURNAL ARTICLE
Yoji Hoshina, Melissa A Wright, Judith E A Warner, Tyler Richards, Karen L Salzman, Stefan M Pulst, Emily Spoth, Stacey L Clardy
ATX-FGF14 (formerly spinocerebellar ataxia 27, OMIM #193003) is an autosomal dominant condition caused by a pathogenic variant in the fibroblast growth factor 14 ( FGF14 , OMIM #601515) gene located on chromosome 13. The phenotypic expression can vary in patients with the same genotype, often delaying diagnosis, especially in probands without known affected relatives and/or with limited available family history. We describe 2 cases of ATX-FGF14 in 1 family with a focus on the importance of differentiating episodic manifestations of neurogenetic conditions from inflammatory/autoimmune neurologic conditions...
October 3, 2023: Neurology
https://read.qxmd.com/read/37416304/case-report-reversible-brain-atrophy-with-low-titer-anti-amphiphysin-antibodies-related-to-gastric-adenocarcinoma
#23
Ryota Amano, Yeon-Jeong Kim, Toshikazu Yoshida, Makoto Hara, Hideto Nakajima, Toshihisa Ohtsuka, Masanobu Yazawa
Amphiphysin (AMPH) autoimmunity is associated with a variety of neurological complications, including encephalitis, peripheral neuropathy, myelopathy, and cerebellar syndrome. Its diagnosis is based on clinical neurological deficits and the presence of serum anti-AMPH antibodies. Active immunotherapy, such as intravenous immunoglobulins, steroids, and other immunosuppressive therapies, has been reported to be effective in most patients. However, the extent of recovery varies depending on the case. Herein, we report the case of a 75-year-old woman with semi-rapidly progressive systemic tremors, visual hallucinations, and irritability...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37370243/tenascin-r-autoimmunity-isolated-tremor-reversed-with-immunotherapy
#24
JOURNAL ARTICLE
Binxia Yang, Andrew Brown, Andrew McKeon, J Eric Ahlskog, Philip Tipton, Yong Guo, Claudia Lucchinetti, Sean J Pittock, Anastasia Zekeridou
Autoimmune movement disorders are increasingly recognized, but isolated tremor is extremely rare. We describe a 70-year-old male with rapidly progressive, severe postural and intention tremor and weight loss. His cerebrospinal fluid was inflammatory and harbored a neural tissue-restricted antibody. The autoantigen was identified by immunoprecipitation and mass spectrometry and confirmed by antigen-specific assays to be specific for tenascin-R. He was investigated for cancer and diagnosed with follicular lymphoma that expressed tenascin-R suggesting a paraneoplastic origin; cancer treatment and immunotherapy led to complete recovery...
September 2023: Annals of Neurology
https://read.qxmd.com/read/37315251/-cerebellar-degeneration-associated-with-hiv-infection
#25
JOURNAL ARTICLE
E P Nuzhnyi, L A Brsikyan, E Yu Fedotova, S N Illarioshkin
OBJECTIVE: To describe the features of the clinical presentation and evaluate the incidence of HIV-associated cerebellar degeneration in patients with progressive cerebellar ataxia. MATERIAL AND METHODS: Three hundred and seventy-seven patients with progressive cerebellar ataxia were studied. Brain MRI study, assessment by the Scale for the Assessment and Rating of Ataxia (SARA), screening for cognitive impairment by the Montreal Cognitive Assessment Scale (MoCA) were performed...
2023: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://read.qxmd.com/read/37246762/caspr1-antibodies-autoimmune-paranodopathy-with-severe-tetraparesis-potential-relevance-of-antibody-titers-in-monitoring-treatment-response
#26
Lorenzo Bresciani, Alessandro Salvalaggio, Elisa Vegezzi, Andrea Visentin, Andrea Fortuna, Mariagiulia Anglani, Mario Cacciavillani, Stefano Masciocchi, Silvia Scaranzin, Miryam Carecchio, Andrea Martinuzzi, Matteo Gastaldi, Chiara Briani
AIM: Nodopathies and paranodopathies are autoimmune neuropathies associated with antibodies to nodal-paranodal antigens (neurofascin 140/186 and 155, contactin-1, contactin-associated protein 1 [Caspr1]) characterized by peculiar clinical features, poor response to standard immunotherapies (e.g., intravenous immunoglobulins, IVIg). Improvement after anti-CD20 monoclonal antibody therapy has been reported. Data on Caspr1 antibodies pathogenicity are still preliminary, and longitudinal titers have been poorly described...
September 2023: Journal of the Peripheral Nervous System: JPNS
https://read.qxmd.com/read/37243038/graves-disease-after-mrna-covid-19-vaccination-with-the-presence-of-autoimmune-antibodies-even-one-year-later
#27
Fuminori Nakamura, Toru Awaya, Masahiro Ohira, Yoshinari Enomoto, Masao Moroi, Masato Nakamura
A 45-year-old man who had received his second mRNA COVID-19 vaccination one week earlier was presented to the emergency department with chest discomfort. Therefore, we suspected post-vaccination myocarditis; however, the patient showed no signs of myocarditis. After 2 weeks, he revisited the hospital complaining of palpitations, hand tremors, and weight loss. The patient exhibited high free thyroxine (FT4) (6.42 ng/dL), low thyroid-stimulating hormone (TSH) (<0.01 μIU/mL), and high TSH receptor antibody (17...
May 3, 2023: Vaccines
https://read.qxmd.com/read/37142858/status-of-vitamin-b12-zinc-copper-selenium-manganese-molybdenum-and-cobalt-in-severe-acute-malnutrition
#28
JOURNAL ARTICLE
Laxmi Kamath, Vinod H Ratageri, Apurva S Kanthi, S R Fattepur, R H Desai
OBJECTIVES: To define the vitamin B12 levels and other micronutrients status in severe acute malnutrition (SAM) children. METHODS: This was a prospective hospital based cross-sectional study. INCLUSION CRITERIA: Children with severe acute malnutrition as per WHO criteria. EXCLUSION CRITERIA: (i) Pernicious anemia (ii) Autoimmune gastritis (iii) SAM children on exclusive vitamin B12 supplementation. All enrolled children underwent a detailed clinical history, general physical examination with more emphasis on clinical features of vitamin B12 and other micronutrients deficiencies...
May 5, 2023: Indian Journal of Pediatrics
https://read.qxmd.com/read/37079256/autoimmune-glial-fibrillary-acidic-protein-astrocytopathy-clinical-analysis-and-review-of-15-cases
#29
JOURNAL ARTICLE
Wei Lan, Jiming Li, Peiying Ai, Weiliang Luo
BACKGROUND: To review clinical characteristics, auxiliary examination results, treatment effects, and outcomes of patients with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP-A). METHODS: We collated and retrospectively analyzed clinical data of 15 patients admitted with clinical characteristics of an autoimmune GFAP-A acute encephalitis or meningitis phenotype. RESULTS: All patients were diagnosed with acute-onset meningoencephalitis and meningoencephalomyelitis...
April 20, 2023: Acta Neurologica Belgica
https://read.qxmd.com/read/37060203/clinical-profile-of-autoimmune-nodopathy-with-anti-neurofascin-186-antibody
#30
JOURNAL ARTICLE
Bingyou Liu, Lei Zhou, Chong Sun, Longjie Wang, Yongsheng Zheng, Bin Hu, Kai Qiao, Chongbo Zhao, Jiahong Lu, Jie Lin
OBJECTIVE: Nodal/paranodal autoantibodies identified a group of peripheral neuropathies independent from chronic inflammatory demyelinating polyneuropathy (CIDP). However, nodopathy with antibody against neurofascin 186 (NF186) was rarely reported. We presented a cohort of patients with anti-NF186 antibody and described the clinical profile of them. METHODS: In this retrospective study, 195 patients diagnosed with CIDP and immune mediated idiopathic neuropathies were enrolled...
June 2023: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/37056784/anti-rituximab-antibodies-in-patients-with-refractory-autoimmune-nodopathy-with-anti-neurofascin-155-antibody
#31
JOURNAL ARTICLE
Yunfei Bai, Wei Li, Chuanzhu Yan, Ying Hou, Qinzhou Wang
BACKGROUND: Recent studies have reported that similar to other IgG4 autoimmune diseases, such as muscle-specific kinase antibody-associated myasthenia gravis, most anti-neurofascin-155 (anti-NF155) nodopathies respond well to rituximab treatment, regardless of the dosage. However, there are still a few patients for which rituximab is ineffective for unknown reasons. Currently, there are no studies on the mechanism of ineffective treatment with rituximab. METHODS: A 33-year-old Chinese man presenting with numbness, tremor, and muscle weakness for 4 years was recruited for this study...
2023: Frontiers in Immunology
https://read.qxmd.com/read/36969186/meningoencephalitis-associated-with-gad65-autoimmunity
#32
JOURNAL ARTICLE
Zuying Kuang, José Fidel Baizabal-Carvallo, Mohammad Mofatteh, Sifen Xie, Mengqiu Pan, Jinlong Ye, Lihua Zhou, Shuiquang Yang, Zhanhang Wang, Yimin Chen, Yaqin Li
BACKGROUND: Encephalitis has been recognized in patients with autoimmunity related to the 65-kDa isoform of glutamic acid decarboxylase (GAD65) antibodies; however, patients with meningoencephalitis associated with those antibodies have been rarely identified in the medical literature. We aimed to define the frequency, clinical features, response to therapy, and functional outcomes of patients with meningoencephalitis associated with GAD antibodies. METHODS: We retrospectively studied consecutive patients attending a tertiary care center for evaluation of an autoimmune neurological disorder from January 2018 to June 2022...
2023: Frontiers in Immunology
https://read.qxmd.com/read/36960248/rare-presentation-of-a-common-disease-graves-thyrotoxicosis-presented-with-non-parathyroid-hypercalcemia-and-jaundice
#33
Ibrahim Ajwah, Sameerah Alshehri, Fahad Alremthi, Nasser Alahmari
Graves' disease (GD) is an autoimmune thyroid disease, which is considered the most common cause of primary hyperthyroidism. GD usually manifests with symptoms such as tremors, palpitations, heat intolerance, weight loss, and specific signs on physical examination (proptosis and pretibial myxedema). However, systemic involvement is also recognized, for example, hepatic involvement in patients with GD may range from asymptomatic laboratory findings of liver function derangement (either transaminases elevations or intrahepatic cholestasis) up to hepatic failure...
February 2023: Curēus
https://read.qxmd.com/read/36949803/thyroid-disorders-and-movement-disorders-a-systematic-review
#34
REVIEW
Susanne A Schneider, Lea Tschaidse, Nicole Reisch
BACKGROUND: There is overlap between movement disorders and neuroendocrine abnormalities. OBJECTIVES AND METHODS: To provide a systematic review on the association of thyroid dysfunction and movement disorders. Thyroid physiological function and classical thyroid disorders highlighting typical and atypical manifestations including movement disorders, as well as diagnostic procedures, and treatments are discussed. RESULTS: Hypothyroidism may be associated with hypokinetic and hyperkinetic disorders...
March 2023: Movement Disorders Clinical Practice
https://read.qxmd.com/read/36940965/the-characteristics-of-grave-s-disease-in-children-and-adolescent-patients-in-al-madinah-al-munawwarah-a-retrospective-chart-review
#35
JOURNAL ARTICLE
Rasha S Alradadi, Noura A Omar, Renad A Alhusayni, Amirah M Almokhtar, Shahad F Muhawish, Mawaddah M Altaleb, Sundus A Tawfiq, Reem M Alraddadi, Randa Q Almalki
OBJECTIVES: To determine the characteristics of Graves' disease in children and adolescents in Medina, the Kingdom of Saudi Arabia, and compare them to those observed in other countries. METHODS: This is a retrospective chart review of children and adolescents diagnosed with Graves' disease between January 2010 and May 2021. RESULTS: Fifty-eight patients aged 12.02 ± 4.85 years were identified, of which 44 (75.9%) were females. Exophthalmos (63...
March 2023: Saudi Medical Journal
https://read.qxmd.com/read/36736538/increased-incidence-and-severity-of-new-graves-disease-diagnoses-in-youth-during-the-covid-19-pandemic
#36
JOURNAL ARTICLE
Julia R Donner, Phinnara Has, Lisa Swartz Topor
OBJECTIVE: Graves disease (GD), an autoimmune disease of the thyroid, is likely caused by a combination of genetic predisposition and environmental triggers. Recent data suggest that COVID-19 may be associated with the development of autoimmune disease. The aim of this study was to assess the incidence and characteristics of new GD diagnoses in youth prior to and during the COVID-19 pandemic. METHODS: We performed a retrospective chart review of all new GD diagnoses in patients aged 0 to 18 years diagnosed at a tertiary care pediatric hospital between January 1, 2018, and December 31, 2021...
February 2, 2023: Endocrine Practice
https://read.qxmd.com/read/36702928/-18-f-fdg-pet-in-conditions-associated-with-hyperkinetic-movement-disorders-and-ataxia-a-systematic-review
#37
REVIEW
Elze R Timmers, Marrit R Klamer, Ramesh S Marapin, Adriaan A Lammertsma, Bauke M de Jong, Rudi A J O Dierckx, Marina A J Tijssen
PURPOSE: To give a comprehensive literature overview of alterations in regional cerebral glucose metabolism, measured using [18 F]FDG PET, in conditions associated with hyperkinetic movement disorders and ataxia. In addition, correlations between glucose metabolism and clinical variables as well as the effect of treatment on glucose metabolism are discussed. METHODS: A systematic literature search was performed according to PRISMA guidelines. Studies concerning tremors, tics, dystonia, ataxia, chorea, myoclonus, functional movement disorders, or mixed movement disorders due to autoimmune or metabolic aetiologies were eligible for inclusion...
January 27, 2023: European Journal of Nuclear Medicine and Molecular Imaging
https://read.qxmd.com/read/36609094/challenging-diagnosis-and-treatment-decision-of-a-long-history-autoantibody-negative-autoimmune-encephalitis-expert-commentary
#38
EDITORIAL
Hesham Abboud
No abstract text is available yet for this article.
February 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/36597054/anti-iglon5-disease-complicated-with-rectal-adenocarcinoma-a-case-report
#39
JOURNAL ARTICLE
Yi Li, Lili Zhang, Yuzhong Wang
BACKGROUND: Anti-IgLON5 disease is a rare chronic autoimmune-mediated tauopathy, featured by the sleep disturbance. Several studies have described its clinical characteristics, however, the simultaneous occurrence of anti-IgLON5 disease and rectal cancer has not been reported. We described an unusual entity of anti-IgLON5 disease complicated with rectal cancer. CASE PRESENTATION: A 76-year-old man initially presented with slurred speech and limb tremors, followed by epileptic-like seizures, lethargy, and sleep apnea...
January 3, 2023: BMC Neurology
https://read.qxmd.com/read/36552122/clinical-manifestation-auxiliary-examination-features-and-prognosis-of-gfap-autoimmunity-a-chinese-cohort-study
#40
JOURNAL ARTICLE
Lei Liu, Boyan Fang, Zhixin Qiao, Xiaomeng Di, Qiuying Ma, Jingxiao Zhang, Jiawei Wang
OBJECTIVE: This paper reports the clinical manifestation and auxiliary examination features of 15 Chinese patients with glial fibrillary acidic protein (GFAP) autoimmunity. METHODS: From June 2016 to December 2019, patients suspected to have neurological autoimmune disease after having their serum and cerebrospinal fluid (CSF) tested for conventional neural antibodies were scanned for additional autoantibodies by immunohistochemistry. Samples that showed a characteristic immunoreactive pattern reminiscent of the GFAP of astrocytes were selected and confirmed by cell-based assay using cells-expressing human GFAPα...
December 3, 2022: Brain Sciences
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