keyword
https://read.qxmd.com/read/38627985/consensus-guidelines-for-the-diagnosis-and-management-of-isolated-sulfite-oxidase-deficiency-and-molybdenum-cofactor-deficiencies
#1
REVIEW
Bernd C Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout
Sulfite intoxication is the hallmark of four ultrarare disorders that are caused by impaired sulfite oxidase activity due to genetic defects in the synthesis of the molybdenum cofactor or of the apoenzyme sulfite oxidase. Delays on the diagnosis of these disorders are common and have been caused by their unspecific presentation of acute neonatal encephalopathy with high early mortality, followed by the evolution of dystonic cerebral palsy and also by the lack of easily available and reliable diagnostic tests...
April 16, 2024: Journal of Inherited Metabolic Disease
https://read.qxmd.com/read/38494275/autoimmune-and-paraneoplastic-seizures
#2
REVIEW
Barbara Wagner, Sarosh Irani
Seizures are a common feature of autoimmune encephalitis and are especially prevalent in patients with the commonest autoantibodies, against LGI1, CASPR2 and the NMDA, GABAB , and GABAA receptors. In this chapter, we discuss the classification, clinical, investigation, and treatment aspects of patients with these, and other autoantibody-mediated and -associated, illnesses. We highlight distinctive and common seizure semiologies which, often alongside other features we outline, can help the clinical diagnosis of an autoantibody-associated syndrome...
2024: Handbook of Clinical Neurology
https://read.qxmd.com/read/38274981/spinal-dystonia-associated-with-transverse-myelitis-in-an-adolescent-female-a-case-report
#3
Endayen Deginet, Abeba Mengesha Abebe, Meskerem Abatkun
BACKGROUND: Dystonia, one of the most common movement disorders, It was mostly a result of pathology in basal ganglia; there have been increasing numbers of dystonia cases reported in patients with spinal cord pathology. CASE PRESENTATION: Here we report, a 14 year old female adolescent from Addis Ababa Ethiopia presented with dystonia of extremities within one month after she was diagnosed with transverse myelitis. CONCLUSION: Although any spinal cord pathology can result in spinal dystonia, demyelinating diseases are among the leading causes...
2024: Adolescent Health, Medicine and Therapeutics
https://read.qxmd.com/read/38185029/antipsychotic-induced-acute-laryngeal-dystonia-a-systematic-review-of-case-reports
#4
REVIEW
Paul A Maguire, Matthew Brazel, Jeffrey C L Looi
Acute laryngeal dystonia (ALD) is a rare but potentially life-threatening complication of both first-generation (FGA) and second-generation (SGA) antipsychotic medication. Delays in diagnosis and treatment have been associated with mortality. We carried out a systematic review of antipsychotic-induced acute laryngeal dystonia using the databases Ovid MEDLINE, PubMed, CINAHL, and EMBASE. Search terms included: (antipsychotic* OR antipsychotic-induced OR neuroleptic* OR neuroleptic-induced) AND (laryngeal dystonia* OR laryngo-pharyngeal dystonia* OR laryngospasm OR laryngeal spasm OR dystonic reaction* OR extrapyramidal reaction*) where * specified plural forms of the relevant word...
January 6, 2024: Schizophrenia Research
https://read.qxmd.com/read/38078618/acute-dystonic-reaction-after-propofol-administration-a-pediatric-case-report
#5
JOURNAL ARTICLE
Lucy Zhao, Mary Ellen McCann, Raymond Seungjoon Park, Danielle Bennett Pier, Dusica Bajic
We present a case of a 12-year-old female with a history of infantile spasms who developed a propofol-associated acute dystonic reaction after emergence from general anesthesia for foot surgery. Uniquely, the patient's postoperative symptoms of an acute dystonic reaction were refractory to standard treatment with anticholinergics but were successfully treated with corticosteroids. The absence of any dystonic symptoms following subsequent foot surgery under general anesthesia without propofol supported a propofol-associated etiology...
December 1, 2023: A&A Practice
https://read.qxmd.com/read/38054149/oculogyric-crisis-due-to-aripiprazole-ingestion-as-a-suicide-attempt-a-case-report
#6
Ammar Bafarat, Badr Alaseeri, Suhail A Labban, Roaa E Morya
Oculogyric crisis (OGC) is a rare type of acute dystonia characterized by spasmodic upward deviation of the eyes lasting for a few minutes to several hours. It is commonly seen with the administration of first-generation antipsychotics and rarely reported in patients taking second-generation antipsychotics. Although aripiprazole, a second-generation antipsychotic, is known for its low potential for extrapyramidal side effects (EPS), there are multiple case reports of it resulting in acute dystonia, especially OGC...
November 2023: Curēus
https://read.qxmd.com/read/38050314/metoclopramide-induced-acute-dystonic-reaction-a-pediatric-case-report
#7
JOURNAL ARTICLE
Chukwuka Elendu, Joseph Adenikinju, Faith Ogala, Tunde Ologunde, Samuel Adebambo, Emmanuel Egbunu
INTRODUCTION: This case report presents a unique acute dystonic reaction (ADR) induced by metoclopramide in a 6-year-old male patient with pertussis-associated vomiting. The rarity of such a reaction in pediatric patients underscores the significance of this case in contributing to the scientific literature. This report highlights the need for heightened awareness of the potential adverse effects of medications commonly used in pediatrics and emphasizes the importance of tailored interventions for this population...
December 1, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/38027463/subtypes-of-complex-regional-pain-syndrome-a-systematic-review-of-the-literature
#8
REVIEW
Lone Knudsen, Lana Santoro, Stephen Bruehl, Norman Harden, Florian Brunner
To systematically identify and summarize possible subtypes of complex regional pain syndrome (CRPS), we searched MEDLINE, Embase, Cochrane, Scopus, and Web of Science for original studies reporting or investigating at least one subtype within a group of patients with CRPS. The search retrieved 4239 potentially relevant references. Twenty-five studies met our inclusion criteria and were included in the analysis. Complex regional pain syndrome phenotypes were investigated based on the following variables: clinical presentation/sensory disturbances, dystonia, skin temperature, disease duration, onset type, CRPS outcome, and neuropsychological test performance...
December 2023: Pain Reports
https://read.qxmd.com/read/37995384/-report-of-two-cases-of-anti-lgi1-autoimmune-encephalitis-in-mexico
#9
JOURNAL ARTICLE
Luis Carlos Reyes-Sosa, Daniela Alexia León-Castillo, Juan Carlos Jiménez-Islas, Crhistian Alejandro Aguilar-Vázquez
UNLABELLED: Background: Anti-LGI1 encephalitis is characterized by a pattern of inflammation that predominantly affects the limbic system It is part of the autoimmune encephalitis that attack neuronal surface antigens. It is characterized by the triad of subacute dementia, faciobrachial dystonic crises, and hyponatremia, presenting an excellent response to immunotherapy. The aim of this article is to describe the clinical evolution and functional outcome at 6 months of two patients with anti-LGI1 encephalitis using clinical cases...
November 6, 2023: Revista Médica del Instituto Mexicano del Seguro Social
https://read.qxmd.com/read/37974908/severe-acute-drug-induced-dystonia-in-the-post-operative-period-requiring-tracheal-re-intubation
#10
A V Baigent, E A J Morris
Ondansetron is a highly selective 5-hydroxytryptamine receptor antagonist and the most commonly used anti-emetic for the prevention of postoperative nausea and vomiting. Ondansetron has a low affinity for dopamine receptors and so extrapyramidal side effects are rare. Here, we present the case of a 14-year-old girl who developed a severe post-operative acute dystonic reaction which included oculogyric crisis. We believe that ondansetron was the most likely cause, although propofol may have been a synergistic or alternative causative agent...
2023: Anaesthesia reports
https://read.qxmd.com/read/37538432/clinico-etiological-spectrum-and-functional-outcomes-of-children-with-pre-status-dystonicus-and-status-dystonicus-sd-a-descriptive-study
#11
JOURNAL ARTICLE
Shridhar P Joshi, Maya Thomas, Sangeetha Yoganathan, Sumita Danda, Mahalakshmi Chandran, Anitha Jasper
BACKGROUND: Status dystonicus (SD) is a life-threatening movement disorder emergency characterized by increasingly frequent and severe episodes of generalized dystonia, requiring urgent hospital admission. The diverse clinico-etiological spectrum, high risk of recurrence, and residual disabilities complicate functional outcomes. AIM: We aim to describe the clinico-etiological spectrum, radiology, therapeutic options, and follow-up of patients with pre-status dystonicus (pre-SD) and SD...
2023: Annals of Indian Academy of Neurology
https://read.qxmd.com/read/37517931/autoimmune-encephalitis-related-to-lgi1-antibodies-with-negative-mri-study-description-of-two-cases
#12
REVIEW
Xia Lian, Kai Zheng, Wenchao Chen, Dongfang Li, Fang Xue, Gaiqing Wang
BACKGROUND: Leucine-rich glioma inactivated 1 (LGI1) antibody-related autoimmune encephalitis is easily misdiagnosed clinically because of its complex and diverse clinical manifestations. We present two cases of LGI1 antibody-related encephalitis with negative imaging findings and perform a literature review on this disease entity. CASE DESCRIPTION: The first case was that of a 60-year-old man who presented with involuntary movement of the paroxysmal right limb...
January 12, 2024: Medicina Clínica
https://read.qxmd.com/read/37503287/chronic-striatal-cholinergic-interneuron-excitation-induces-clinically-relevant-dystonic-behavior-in-mice
#13
Kat Gemperli, Xinguo Lu, Keerthana Chintalapati, Alyssa Rust, Rishabh Bajpai, Nathan Suh, Joanna Blackburn, Rose Gelineau-Morel, Michael C Kruer, Dararat Mingbundersuk, Jennifer O'Malley, Laura Tochen, Jeff Waugh, Steve Wu, Timothy Feyma, Joel Perlmutter, Steven Mennerick, Jordan McCall, Bhooma R Aravamuthan
UNLABELLED: Dystonia is common, debilitating, often medically refractory, and difficult to diagnose. The gold standard for both clinical and mouse model dystonia evaluation is subjective assessment, ideally by expert consensus. However, this subjectivity makes translational quantification of clinically-relevant dystonia metrics across species nearly impossible. Many mouse models of genetic dystonias display abnormal striatal cholinergic interneuron excitation, but few display subjectively dystonic features...
July 21, 2023: bioRxiv
https://read.qxmd.com/read/37497103/case-report-metoclopramide-induced-acute-dystonic-reaction-in-adolescent-cyp2d6-poor-metabolizers
#14
Franz-Martin Fink, Marta Bognar, Petra Hengl, Markus Paulmichl, Charity Nofziger
Metoclopramide is indicated for the management of gastroesophageal reflux, gastric stasis, nausea, and vomiting. Metoclopramide-induced acute dystonic reactions (MIADRs), along with repetitive involuntary protrusion of the tongue, are well-known phenomena in children and young adults that may appear after the first dose. The drug is primarily metabolized via oxidation by the cytochrome P450 enzyme CYP2D6 and to a lesser extent by CYP3A4 and CYP1A2. A recommendation to decrease metoclopramide dosing in patients with severely limited to no CYP2D6 activity (i...
2023: Frontiers in Pharmacology
https://read.qxmd.com/read/37480318/metoclopramide-induced-acute-dystonic-reaction-in-two-patients-cyp2d6-4-4-10-10-poor-and-1-5-intermediate-metabolizers
#15
JOURNAL ARTICLE
Iva Šarac, Helena Šarac, Tamara Božina, Livija Šimičević, Fran Borovečki, Neven Henigsberg, Nada Božina, Jadranka Sertić, Ida Ivek
No abstract text is available yet for this article.
2023: Psychiatria Danubina
https://read.qxmd.com/read/37443415/efficacy-of-immunotherapy-and-prognosis-in-anti-lgi1-encephalitis-patients-a-meta-analysis
#16
JOURNAL ARTICLE
Xueying Kong, Xue Gong, Aiqing Li, Yue Liu, Xingjie Li, Jinmei Li, Dong Zhou, Zhen Hong
OBJECTIVE: To assess the efficacy and safety of immunotherapy for LGI1 antibody encephalitis, and consider the predictors of poor outcomes following immunotherapy. METHODS: We searched PubMed and Embase for articles reporting the immunotherapy data of anti-LGI1 encephalitis patients. The proportions of patients with poor outcomes (modified Rankin Scale [mRS] score > 2) at 3 months, 12 months, and the last follow-up, as well as the odds ratio [OR] of predictors were pooled...
September 2023: Annals of Clinical and Translational Neurology
https://read.qxmd.com/read/37383232/case-report-anti-iglon5-disease-and-anti-lgi1-encephalitis-following-covid-19
#17
Yanfei Li, Yanjie Jia
Anti-IgLON family member 5 (IgLON5) disease is a rare autoimmune encephalitis, characterized by sleep problems, cognitive decline, gait abnormalities, and bulbar dysfunction. Anti-leucine-rich glioma-inactivated 1 (LGI1) autoimmune encephalitis is characterized by cognitive dysfunction, mental disorders, faciobrachial dystonic seizures (FBDS), and hyponatremia. Various studies report that coronavirus disease 2019 (COVID-19) have an effect on the nervous system and induce a wide range of neurological symptoms...
2023: Frontiers in Immunology
https://read.qxmd.com/read/37090940/new-onset-refractory-status-epilepticus-due-to-a-novel-mt-tf-variant-time-for-acute-genetic-testing-before-treatment
#18
JOURNAL ARTICLE
Elisabetta Indelicato, Johannes Pfeilstetter, Michael Zech, Iris Unterberger, Julia Wanschitz, Steffen Berweck, Sylvia Boesch
OBJECTIVE: The gene MT-TF encodes the mitochondrial tRNA of phenylalanine (tRNAphe ). Its variations have been described as extremely rare etiologies of a variety of mitochondrial phenotypes. METHODS: By means of whole-exome sequencing (WES), we detected a novel likely causative MT-TF variant (m.610T>C) in a family presenting with a combined movement disorder and epilepsy phenotype. The variant was present at 97% heteroplasmy in the peripheral blood and in a homoplasmic state in skin fibroblast-derived DNA...
April 2023: Neurology. Genetics
https://read.qxmd.com/read/37069884/anti-leucine-rich-glioma-inactivated-1-anti-lgi-1-limbic-encephalitis-and-new-onset-psychosis-a-case-report
#19
António Alho, Nuria F Santos, Rita Felício, Carlos J Vieira
Anti-leucine-rich glioma-inactivated 1 limbic encephalitis (Anti-LGI 1 LE) is a subtype of autoimmune encephalitis (AE) and the most common cause of limbic encephalitis (LE). Clinically, it can have an acute to sub-acute onset of confusion and cognitive impairment, facial-brachial dystonic seizures (FDBS), and psychiatric disturbances. The clinical manifestations are varied, and its diagnosis requires high clinical suspicion to avoid delay in the treatment. When patients manifest mostly psychiatric symptoms, the disease may not be immediately recognized...
March 2023: Curēus
https://read.qxmd.com/read/36958405/a-feline-model-of-spontaneously-occurring-autoimmune-limbic-encephalitis
#20
JOURNAL ARTICLE
U Glantschnigg-Eisl, A Klang, S Kneissl, B Lang, P Waters, S R Irani, S N M Binks, A Pakozdy
Autoimmune encephalitis (AE) is an important cause of encephalitis in humans and occurs at a similar rate to infectious encephalitis. It is frequently associated with antibodies against the extracellular domain of neuronal proteins. Among human AE, that with antibodies against leucine-rich glioma-inactivated 1 (LGI1) is one of the most prevalent forms, and was recently described in cats with limbic encephalitis (LE). In this study, we describe a large cohort (n = 32) of cats with AE, tested positive for voltage gated potassium channel (VGKC)-antibodies, of which 26 (81%) harboured LGI1-antibodies...
2023: Veterinary Journal
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