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https://www.readbyqxmd.com/read/28287071/auditory-seizures-in-autoimmune-epilepsy-a-case-with-anti-thyroid-antibodies
#1
Claudia Varrasi, Domizia Vecchio, Luca Magistrelli, Gionata Strigaro, Laura Tassi, Roberto Cantello
In its classic presentation, Hashimoto's encephalopathy is an acute-subacute complex neuropsychiatric syndrome with cognitive impairment, hallucinations, myoclonus, tremor or ataxia, associated with elevated anti-thyroid antibodies. Corticoids and immunotherapy are dramatically effective. However, in some cases, not all the associated features are presented and this delays diagnosis and appropriate treatment. We describe a man with abrupt onset of recurrent auditory seizures resulting in refractory non-convulsive status epilepticus...
March 8, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28195550/novel-germline-mutation-leu512met-in-the-thyrotropin-receptor-gene-tshr-leading-to-sporadic-non-autoimmune-hyperthyroidism
#2
Stephanie A Roberts, Jennifer E Moon, Andrew Dauber, Jessica R Smith
BACKGROUND: Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in the TSHR gene who presented with accelerated growth, enlarging head circumference, tremor and thyrotoxicosis...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28182102/a-case-report-of-nonvasculitic-autoimmune-inflammatory-meningoencephalitis-with-sensory-ganglionopathy-a-rare-presentation-of-sj%C3%A3-gren-syndrome
#3
João Peres, Simão Cruz, Rita Oliveira, Luís Santos, Ana Valverde
A 68-year-old Caucasian female was admitted to the emergency department with a progressive history of behavioural symptoms and anxiety followed by visual and auditory hallucinations, forgetfulness, and impaired gait in the previous 3 months. On examination she was psychotic and had a postural and rest tremor of the upper limbs, cogwheel rigidity of the four limbs, retropulsion on standing position, and inability to walk. During the following 2 weeks she developed xerostomia and unilateral parotiditis that improved with steroids...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#4
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28007405/ephedrine-treatment-for-autoimmune-myasthenia-gravis
#5
Alexander F Lipka, Charlotte Vrinten, Erik W van Zwet, Kirsten J M Schimmel, Martina C Cornel, Marja R Kuijpers, Yechiel A Hekster, Stephanie S Weinreich, Jan J G M Verschuuren
We studied the effect and safety of ephedrine as add-on treatment for patients with myasthenia gravis with acetylcholine receptor antibodies (AChR MG), who do not sufficiently respond to standard treatment. Four patients with AChR MG were included in a placebo-controlled, double-blind, and randomised, multiple crossover series of n-of-1 trials. Each n-of-1 trial consisted of 3 cycles, in which two 5-day intervention periods were followed by 2 days washout. In each cycle, ephedrine 50 mg daily in 2 doses was compared with placebo in the alternate treatment period...
March 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/27956238/enhanced-dopaminergic-neurotoxicity-mediated-by-mptp-in-il-32%C3%AE-transgenic-mice
#6
Yu Yeon Jung, Nikita Katila, Sabita Neupane, Sina Shadfar, Uttam Ojha, Sunil Bhurtel, Sunil Strivastav, Dong Ju Son, Pil-Hoon Park, Do Young Yoon, Jin Tae Hong, Dong-Young Choi
Parkinson's disease (PD) is a neurodegenerative disorder characterized by prominent loss of the nigral dopaminergic neurons and motor symptoms, such as resting tremor and bradykinesia. Evidence suggests that neuroinflammation may play a critical role in PD pathogenesis. Interleukin (IL)-32 is a newly-identified proinflammatory cytokine, which regulates innate and adaptive immune responses by activating p38 MAPK and NF-κB signaling pathways. The cytokine has been implicated in cancers and autoimmune, inflammatory, and infectious diseases...
December 9, 2016: Neurochemistry International
https://www.readbyqxmd.com/read/27936530/endocrinology-update-thyroid-disorders
#7
Scott Kelley
Thyroid disease affects nearly every organ system in the body. Hypothyroidism is a state of thyroid hormone insufficiency that results in decreased metabolism and secondary effects including fatigue and weight gain. Primary hypothyroidism typically is a result of autoimmune thyroiditis or iodine deficiency and is assessed by measurement of the thyroid-stimulating hormone (TSH) level. This level usually is elevated in patients with hypothyroidism and low in patients with hyperthyroidism. Levothyroxine is the treatment of choice for hypothyroidism...
December 2016: FP Essentials
https://www.readbyqxmd.com/read/27809623/onset-of-graves-disease-during-pregnancy-in-a-woman-with-established-hypothyroidism
#8
María Alberiche, Rosa María Sánchez-Hernández, Xabier López Mérida, Ana María Wägner
BACKGROUND: Pregnancy strongly influences the thyroid gland and its function. Thyroid guidelines recommend a 30 to 50% increase of the preconceptional levothyroxine dose in women with hypothyroidism, when pregnancy is diagnosed. CASE: A 33 year-old, 8-week pregnant woman with hypothyroidism, presents with a 2-week history of palpitations, sweating, nervousness and fatigue. Physical examination shows tachycardia (108 bpm), distal tremors and diffuse goiter. After biochemical confirmation of hyperthyroidism, her levothyroxine dose is reduced and finally interrupted...
January 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27733015/adipose-stromal-vascular-fraction-mediated-improvements-at-late-stage-disease-in-a-murine-model-of-multiple-sclerosis
#9
Annie C Bowles, Amy L Strong, Rachel M Wise, Robert C Thomas, Brittany Y Gerstein, Maria F Dutreil, Ryan S Hunter, Jeffrey M Gimble, Bruce A Bunnell
Multiple sclerosis (MS) is a common neurodegenerative disease and remains an unmet clinical challenge. In MS, an autoimmune response leads to immune cell infiltration, inflammation, demyelination, and lesions in central nervous system (CNS) tissues resulting in tremors, fatigue, and progressive loss of motor function. These pathologic hallmarks are effectively reproduced in the murine experimental autoimmune encephalomyelitis (EAE) model. The stromal vascular fraction (SVF) of adipose tissue is composed of adipose-derived stromal/stem cells (ASC), adipocytes, and various leukocytes...
October 12, 2016: Stem Cells
https://www.readbyqxmd.com/read/27667488/-clinical-features-and-treatment-of-hashimoto-encephalopathy
#10
Yoshimitsu Maki, Hiroshi Takashima
Hashimoto encephalopathy (HE) is characterized by heterogeneous neurological symptoms. HE is diagnosed based on three criteria-the presence of antithyroid antibodies, neurological symptoms from the cerebrum and/or cerebellum, and a positive response to immunotherapy. We clinically analyzed 18 patients (3 men, 15 women; age range, 38-81years) diagnosed with HE in our hospital from May 2013 to January 2016. Eleven patients showed sensory abnormalities such as strong pain, deep muscle pain, dysesthesia, paresthesia, or neuralgia...
September 2016: Brain and Nerve, Shinkei Kenkyū No Shinpo
https://www.readbyqxmd.com/read/27631202/variations-of-movement-disorders-in-anti-n-methyl-d-aspartate-receptor-encephalitis-a-nationwide-study-in-taiwan
#11
Bi-Chun Duan, Wen-Chin Weng, Kuang-Lin Lin, Lee Chin Wong, Sung-Tse Li, Mei-Hsin Hsu, Jainn-Jim Lin, Pi-Chaun Fan, Ming-I Lin, Nan-Chang Chiu, Yu-Ching Lin, Huei-Shyong Wang, Kun-Long Hung, Wang-Tso Lee
Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is one of the most common autoimmune encephalitis that presents with a wide variety of movement disorders. The purpose of our study is to review the manifestations and duration of movement disorders in different ages with NMDAR encephalitis.A retrospective cohort of 28 patients (20 females and 8 males) with positive cerebrospinal fluid (CSF) anti-NMDAR antibody in a 5-year period from major hospitals in Taiwan was enrolled. They were categorized into 3 age groups: 7 patients were ≤10 years, 14 patients were 10 to 18 years, and 7 patients were >18 years...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27618707/autoimmune-glial-fibrillary-acidic-protein-astrocytopathy-a-novel-meningoencephalomyelitis
#12
Boyan Fang, Andrew McKeon, Shannon R Hinson, Thomas J Kryzer, Sean J Pittock, Allen J Aksamit, Vanda A Lennon
Importance: A novel astrocytic autoantibody has been identified as a biomarker of a relapsing autoimmune meningoencephalomyelitis that is immunotherapy responsive. Seropositivity distinguishes autoimmune glial fibrillary acidic protein (GFAP) meningoencephalomyelitis from disorders commonly considered in the differential diagnosis. Objective: To describe a novel IgG autoantibody found in serum or cerebrospinal fluid that is specific for a cytosolic intermediate filament protein of astrocytes...
November 1, 2016: JAMA Neurology
https://www.readbyqxmd.com/read/27497913/parkinson-s-disease-autoimmunity-and-neuroinflammation
#13
REVIEW
Armando De Virgilio, Antonio Greco, Giovanni Fabbrini, Maurizio Inghilleri, Maria Ida Rizzo, Andrea Gallo, Michela Conte, Chiara Rosato, Mario Ciniglio Appiani, Marco de Vincentiis
Parkinson's disease is a neurodegenerative disease that causes the death of dopaminergic neurons in the substantia nigra. The resulting dopamine deficiency in the basal ganglia leads to a movement disorder that is characterized by classical parkinsonian motor symptoms. Parkinson's disease is recognized as the most common neurodegenerative disorder after Alzheimer's disease. PD ethiopathogenesis remains to be elucidated and has been connected to genetic, environmental and immunologic conditions. The past decade has provided evidence for a significant role of the immune system in PD pathogenesis, either through inflammation or an autoimmune response...
October 2016: Autoimmunity Reviews
https://www.readbyqxmd.com/read/27127515/encephalopathy-associated-with-autoimmune-thyroid-disease-a-potentially-reversible-condition
#14
Inês Correia, Inês B Marques, Rogério Ferreira, Lívia Sousa
Autoimmune thyroid disease may occasionally associate with unspecific neurological symptoms, which are more commonly insidious, include cognitive or behavioural symptoms, and may associate with tremor, myoclonus, or ataxia. We report a 61-year-old female patient who presented with chronic headache, insidious mood, and cognitive disturbance which evolved in a few months to dementia associated with exuberant limb myoclonus. Diagnostic workup revealed high anti-thyroid peroxidase antibody titers and an inflammatory CSF profile, and it was negative for other possible etiologies...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27053216/quaking-regulates-neurofascin-155-expression-for-myelin-and-axoglial-junction-maintenance
#15
Lama Darbelli, Gillian Vogel, Guillermina Almazan, Stéphane Richard
UNLABELLED: RNA binding proteins required for the maintenance of myelin and axoglial junctions are unknown. Herein, we report that deletion of the Quaking (QKI) RNA binding proteins in oligodendrocytes (OLs) using Olig2-Cre results in mice displaying rapid tremors at postnatal day 10, followed by death at postnatal week 3. Extensive CNS hypomyelination was observed as a result of OL differentiation defects during development. The QKI proteins were also required for adult myelin maintenance, because their ablation using PLP-CreERT resulted in hindlimb paralysis with immobility at ∼30 d after 4-hydroxytamoxifen injection...
April 6, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/27042364/hashimoto-s-thyroiditis-and-graves-disease-in-one-patient-the-extremes-of-thyroid-dysfunction-associated-with-interferon-treatment
#16
R H Bishay, R C Y Chen
Autoimmune thyroid disease associated with interferon therapy can manifest as destructive thyroiditis, Graves' Hyperthyroidism, and autoimmune (often subclinical) hypothyroidism, the latter persisting in many patients. There are scare reports of a single patient developing extremes of autoimmune thyroid disease activated by the immunomodulatory effects of interferon. A 60-year-old man received 48 weeks of pegylated interferon and ribavirin therapy for chronic HCV. Six months into treatment, he reported fatigue, weight gain, and slowed cognition...
2016: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/26631473/er-chaperone-bip-grp78-is-required-for-myelinating-cell-survival-and-provides-protection-during-experimental-autoimmune-encephalomyelitis
#17
Yassir Hussien, Joseph R Podojil, Andrew P Robinson, Amy S Lee, Steven D Miller, Brian Popko
Myelinating cells synthesize large amounts of membrane protein through the secretory pathway, which makes these cells particularly sensitive to perturbations of the endoplasmic reticulum (ER). Ig binding protein (BiP), also known as glucose-regulated protein 78 (GRP78), is a critical ER chaperone that also plays a pivotal role in controlling the cellular response to ER stress. To examine the potential importance of BiP to myelinating cells, we used a conditional knock-out approach to BiP gene inactivation in oligodendrocytes during development, in adulthood, and in response to experimental autoimmune encephalomyelitis (EAE), an animal model of the inflammatory demyelinating disorder multiple sclerosis (MS)...
December 2, 2015: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/26421199/recurrent-episodes-of-thyrotoxicosis-in-a-man-following-pregnancies-of-his-spouse-with-hashimoto-s-thyroiditis
#18
Regina Belokovskaya, Alice C Levine
Over an 8-year period, a male patient presented three times to an endocrinologist with strikingly similar presentations, including palpitations, anxiety, and tremors. Each of his presentations occurred following either the birth of one of his two children or his wife's late termination of pregnancy. This patient's illness followed the typical time course of silent thyroiditis: hyperthyroidism, followed by euthyroidism, a late hypothyroid phase, and then a complete resolution of symptoms and normalization of thyroid function tests over a period of several months...
2015: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/26344328/a-rare-case-of-childhood-stiff-person-syndrome-associated-with-pleuropulmonary-blastoma
#19
Hyun-Ok Jun, Mi-Sun Yum, Eun-Hee Kim, Yun-Jeong Lee, Jong-Jin Seo, Tae-Sung Ko
INTRODUCTION: Stiff person syndrome is a rare autoimmune, neurological disorder characterized by progressive rigidity and episodic painful spasms, predominantly affecting the proximal limbs and axial muscles, and leading to progressive disability. We report the case of a child who developed symptoms compatible with stiff person syndrome during treatment for pleuropulmonary blastoma. PATIENT DESCRIPTION: A 3-year, 5-month-old girl was admitted for gradually worsening postural tremor, painful spasms, and generalized stiffness...
November 2015: Pediatric Neurology
https://www.readbyqxmd.com/read/26300942/graves-disease-following-rabbit-antithymocyte-globulin-treatment-of-severe-aplastic-anemia-in-a-korean-child
#20
In Su Choi, Han Kyul Kim, Dong Kyun Han, Hee Jo Baek, Hae In Jang, Chan Jong Kim, Hoon Kook
Antithymocyte globulin (ATG) is used as an immunosuppressive treatment (IST) to deplete clonal suppressor T cells in patients with severe aplastic anemia (SAA). The depletion of suppressor T cells by ATG may affect the activation of B cells, which results in an increased risk for autoimmune conditions. A 12-year-old boy was diagnosed with idiopathic SAA. As he did not have an human leukocyte antigen-matched sibling, he was treated with rabbit ATG (3.5 mg/kg/day for 5 days) and cyclosporine. Five months later, he became transfusion independent...
July 2015: Korean Journal of Pediatrics
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