keyword
MENU ▼
Read by QxMD icon Read
search

Myoclonus

keyword
https://www.readbyqxmd.com/read/29913018/assessment-of-a-targeted-gene-panel-for-identification-of-genes-associated-with-movement-disorders
#1
Solveig Montaut, Christine Tranchant, Nathalie Drouot, Gabrielle Rudolf, Claire Guissart, Julien Tarabeux, Tristan Stemmelen, Amandine Velt, Cécile Fourrage, Patrick Nitschké, Bénédicte Gerard, Jean-Louis Mandel, Michel Koenig, Jamel Chelly, Mathieu Anheim
Importance: Movement disorders are characterized by a marked genotypic and phenotypic heterogeneity, complicating diagnostic work in clinical practice and molecular diagnosis. Objective: To develop and evaluate a targeted sequencing approach using a customized panel of genes involved in movement disorders. Design, Setting and Participants: We selected 127 genes associated with movement disorders to create a customized enrichment in solution capture array...
June 18, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29906252/pembrolizumab-for-patients-with-refractory-or-relapsed-thymic-epithelial-tumor-an-open-label-phase-ii-trial
#2
Jinhyun Cho, Hae Su Kim, Bo Mi Ku, Yoon-La Choi, Razvan Cristescu, Joungho Han, Jong-Mu Sun, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Myung-Ju Ahn
Purpose Limited treatment options exist for patients with thymic epithelial tumor (TET) whose disease progresses after platinum-based chemotherapy. We conducted a phase II study of pembrolizumab in patients with TET to evaluate its efficacy and safety. Methods Patients with histologically confirmed TET whose disease progressed after at least one line of platinum-based chemotherapy were eligible for the study. Patients were excluded if they had an active autoimmune disease requiring systemic treatment within the past year or documented history of clinically severe autoimmune disease...
June 15, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29905155/a-case-of-perioral-myoclonia-with-absences-and-its-evolution-in-adulthood
#3
Reyhan Surmelı, Hatice Kurucu, Ayse Destina Yalcın, Seher Naz Yenı
The rare syndrome of perioral myoclonia with absences (POMA) is described as a specific type of idiopathic generalized epilepsy in which absence seizures are accompanied by prominent perioral myoclonus as a consistent symptom. We present a 52-year-old man who was referred to our department due to treatment-resistant epilepsy. Typical seizures were described as rhythmic twitching of the lips which started at six years old, and his first convulsive seizure occurred at around 20 years old. Based on video-EEG recordings, we present two distinct EEG patterns accompanied by slight differences in clinical manifestations, which appear to be atypical of POMA...
June 15, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29904974/anti-glycine-receptor-antibody-related-disease-a-case-series-and-literature-review
#4
Andrew Swayne, Linda Tjoa, Simon Broadley, Sasha Dionisio, David Gillis, Leslie Jacobson, Mark R Woodhall, Andrew McNabb, Daniel Schweitzer, Ben Tsang, Angela Vincent, Sarosh R Irani, Richard Wong, Patrick Waters, Stefan Blum
INTRODUCTION: Antibodies to glycine receptors (GlyR-Abs) were first defined in progressive encephalopathy with rigidity and myoclonus (PERM), but subsequently identified in other clinical presentations. We aimed to assess the clinical associations of all patients identified with GlyR-Abs in Queensland, Australia between April 2014 to May 2017, and compared these to cases reported in the literature. METHODS: A literature review identified the clinical features of all published GlyR-Ab positive cases through online databases...
June 15, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29897043/early-onset-epileptic-encephalopathy-with-myoclonic-seizures-related-to-9q33-3-q34-11-deletion-involving-stxbp1-and-sptan1-genes
#5
Akilandeswari Aravindhan, Kinal Shah, Jayoung Pak, Aravindhan Veerapandiyan
We describe a 10-month-old boy with early-onset epileptic encephalopathy who was found to have a hemizygous deletion in 9q33.3-q34.11 involving STXBP1 and SPTAN1 genes. He presented at the age of 2.5 months with frequent upper extremity myoclonus, hypotonia, and facial dysmorphisms. Interictal EEG showed multifocal polyspike and wave during wakefulness and sleep. Ictal EEG revealed low-amplitude generalized sharp slow activity, followed by diffuse attenuation. Metabolic testing was unrevealing. Brain MRI showed thinning of the corpus callosum with an absence of rostrum...
June 12, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29894724/pharmacological-rescue-of-mutated-k-v-3-1-ion-channel-linked-to-progressive-myoclonus-epilepsies
#6
Anders Sonne Munch, Arnela Saljic, Kim Boddum, Morten Grunnet, Charlotte Hougaard, Thomas Jespersen
Progressive myoclonus epilepsies (PMEs) constitute a cluster of inherent, genetically diverse, rare seizure disorders characterized by ataxia, tonic-clonic seizures, and action myoclonus. Recently, a mutation in the KCNC1 gene (Arg320His) was described in a group of PME patients. The KCNC1 gene encodes the Kv 3.1 potassium ion channel responsible for the rapid repolarization of the membrane potential following action potential firing in fast spiking GABAergic interneurons (FSI), thereby enabling high firing frequency...
June 9, 2018: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29891101/-paraneoplastic-syndromes-in-ophthalmology-french-version-of-the-article
#7
REVIEW
A Bussat, S Langner-Lemercier, A Salmon, F Mouriaux
Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. Although these syndromes are rare, the clinical manifestations can herald an unsuspected, underlying malignancy. The associated antibodies and histopathology of each syndrome are presented to help in the understanding of these autoimmune phenomena. Outlined in this review article are diagnostic features useful in differentiating cancer-associated retinopathy, melanoma-associated retinopathy, paraneoplastic polymorphous vitelliform maculopathy, bilateral diffuse uveal melanocytic proliferation and paraneoplastic neurologic syndromes such as optic neuropathy, opsoclonus-myoclonus, Lambert-Eaton myasthenia and paraneoplastic cerebellar degeneration...
June 9, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29891069/immune-mediated-ataxias
#8
Bastien Joubert, Kevin Rostásy, Jérôme Honnorat
Immune-mediated cerebellar ataxia (CA) comprises a group of rare diseases that are still incompletely described, and are probably underdiagnosed. Both acute and progressive progressions are possible. Different syndromes have been identified, including CA associated with anti-GAD antibodies, the cerebellar type of Hashimoto encephalopathy, primary autoimmune CA, gluten ataxia, opsoclonus-myoclonus syndrome, and paraneoplastic cerebellar degenerations. Most of these syndromes are associated with autoantibodies targeting neuronal antigens...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29887134/sporadic-creutzfeldt-jakob-disease
#9
Inga Zerr, Piero Parchi
Sporadic Creutzfeldt-Jakob disease (CJD), the most common human prion disease, is generally regarded as a spontaneous neurodegenerative illness, arising either from a spontaneous PRNP somatic mutation or a stochastic PrP structural change. Alternatively, the possibility of an infection from animals or other source remains to be completely ruled out. Sporadic CJD is clinically characterized by rapidly progressive dementia with ataxia, myoclonus, or other neurologic signs and, neuropathologically, by the presence of aggregates of abnormal prion protein, spongiform change, neuronal loss, and gliosis...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29881811/extraneurological-sparing-in-long-lived-typical-lafora-disease
#10
Danielle Goldsmith, Berge A Minassian
Lafora disease (LD) clinically appears in previously healthy teenagers as progressively worsening seizures, myoclonus, dementia, and ultimately a vegetative state leading to death within a decade of its onset. Here we present a typical case of LD in which the patient survived until the age of 40. Although the patient's brain was severely affected, other organs remained functional until her death. The field of LD research is approaching potentially curative therapies (eg, with antisense oligonucleotides or gene replacement) targeting only the central nervous system (CNS)...
June 2018: Epilepsia Open
https://www.readbyqxmd.com/read/29880584/clinical-and-biologic-correlates-of-neurotoxicity-associated-with-car-t-cell-therapy-in-patients-with-b-cell-acute-lymphoblastic-leukemia-b-all
#11
Bianca D Santomasso, Jae H Park, Darin Salloum, Isabelle Rivière, Jessica Flynn, Elena Mead, Elizabeth Halton, Xiuyan Wang, Brigitte Senechal, Terence Purdon, Justin R Cross, Hui Liu, Behroze Vachha, Xi Chen, Lisa M DeAngelis, Daniel Li, Yvette Bernal, Mithat Gonen, Hans-Guido Wendel, Michel Sadelain, Renier J Brentjens
CD19-specific chimeric antigen receptor (CAR) T cell therapy is highly effective against relapsed or refractory acute lymphoblastic leukemia (ALL), but is hindered by neurotoxicity. In 53 adult patients with ALL, we found a significant association of severe neurotoxicity with high pretreatment disease burden, higher peak CAR T cell expansion and early and higher elevations of proinflammatory cytokines in blood. Patients with severe neurotoxicity had evidence of blood-cerebrospinal fluid (CSF) barrier disruption correlating with neurotoxicity grade without association with CSF white blood cell count or CAR T-cell quantity in CSF...
June 7, 2018: Cancer Discovery
https://www.readbyqxmd.com/read/29879048/effects-of-transcutaneous-acupoint-electrical-stimulation-combined-with-low-dose-sufentanil-pretreatment-on-the-incidence-and-severity-of-etomidate-induced-myoclonus-a-randomized-controlled-trial
#12
Ya Lv, Haijuan He, Junjie Xie, WenJun Jin, CanJi Shou, Yuanyuan Pan, Leilei Wang, Yunchang Mo, Qinxue Dai, Wujun Geng, Junlu Wang
BACKGROUND: Myoclonus is an undesirable phenomenon that occurs after induction of general anesthesia using etomidate. Opioids such as sufentanil are considered effective pretreatment drugs for myoclonus inhibition, although high doses are required. Transcutaneous acupoint electrical stimulation (TAES), a noninvasive technique involving electrical stimulation of the skin at the acupuncture points, exhibits analgesic effects, promotes anesthetic effects, decreases the dose of anesthetic drugs, and increases endogenous opioid peptide levels...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29875163/biochemical-and-clinical-aspects-of-glycogen-storage-diseases
#13
Sara Sadeghi Ellingwood, Alan Cheng
The synthesis of glycogen represents a key pathway for the disposal of excess glucose while its degradation is crucial for providing energy during exercise and times of need. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved. In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical Glycogen Storage Diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain...
June 6, 2018: Journal of Endocrinology
https://www.readbyqxmd.com/read/29843203/comparison-of-priming-versus-slow-injection-for-reducing-etomidate-induced-myoclonus-a-randomized-controlled-study
#14
Parul Mullick, Vandana Talwar, Shipra Aggarwal, Smita Prakash, Mridula Pawar
Background: Etomidate injection is often associated with myoclonus. Etomidate injection technique influences the incidence of myoclonus. This study was designed to clarify which of the two injection techniques-slow injection or priming with etomidate-is more effective in reducing myoclonus. Methods: This prospective randomized controlled study was conducted on 189 surgical patients allocated to three study groups. Control group (Group C, n = 63) received 0.3 mg/kg etomidate (induction dose) over 20 s...
May 30, 2018: Korean Journal of Anesthesiology
https://www.readbyqxmd.com/read/29803873/transcranial-magnetic-stimulation-in-myoclonus-of-different-aetiologies
#15
REVIEW
Raffaele Nardone, Viviana Versace, Yvonne Höller, Luca Sebastianelli, Francesco Brigo, Piergiorgio Lochner, Stefan Golaszewski, Leopold Saltuari, Eugen Trinka
Transcranial magnetic stimulation (TMS) may represent a valuable tool for investigating important neurophysiological and pathophysiological aspects of myoclonus. Moreover, repetitive TMS (rTMS) can influence neural activity. In this review we performed a systematic search of all studies using TMS in order to explore cortical excitability/plasticity and rTMS for the treatment of myoclonus due to different aetiologies. We identified and reviewed 40 articles matching the inclusion criteria; 415 patients were included in these studies...
May 24, 2018: Brain Research Bulletin
https://www.readbyqxmd.com/read/29798005/-research-progress-of-vascular-pulsatile-tinnitus
#16
REVIEW
(no author information available yet)
Pulsatile tinnitus (PT) is relatively rare, which accounts for approximately 4% of patients with tinnitus. It originates from mostly vascular structures within the cranial cavity, head and neck region or thoracic cavity, and is transmitted to the cochlear by bony or vascular structures and the blood flow, stimulating patient's hearing. It can be the patient's subjective feelings, there can be objective performance.Vascular PT is more common than non-vascular PT. Vascular PT can be further classified by vessel of origin as arterial and venous ones, and the latter is more commonly seen clinically...
September 20, 2017: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29791879/seizure-imitators-monitored-using-video-eeg-in-children-with-intellectual-disabilities
#17
Riyo Ueda, Yuko Shimizu-Motohashi, Kenji Sugai, Eri Takeshita, Akihiko Ishiyama, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Masayuki Sasaki
Diagnosis of seizure imitators in children is often challenging, and individuals with intellectual disability (ID) could be at additional risk of seizure imitator misdiagnosis. We aimed to elucidate distinct features of clinical semiology among children of different intellectual levels, which may help in distinguishing seizure imitators from epilepsy in such individuals. We retrospectively compared semiological features of seizure imitators in children with and without ID captured using video-electroencephalography (video-EEG)...
May 20, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29784239/paraneoplastic-syndromes-in-ophthalmology
#18
REVIEW
A Bussat, S Langner-Lemercier, A Salmon, F Mouriaux
Paraneoplastic syndromes involving the visual system are a heterogeneous group of disorders occurring in the setting of systemic malignancy. They are unrelated to local tumor invasion or metastasis and unexplained by nutritional, metabolic, infectious or iatrogenic causes. The presence of antibodies may aid in the diagnosis of a paraneoplastic syndrome, although this is not an absolute requirement. Chorioretinal involvement is seen in CAR (cancer-associated retinopathy) syndrome, MAR (melanoma-associated retinopathy) syndrome, paraneoplastic vitelliform maculopathy, and bilateral diffuse uveal melanocytic proliferation...
May 18, 2018: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29775768/canine-pet-dog-tumor-microsurgery-and-intratumoral-concentration-and-safety-of-metronomic-chlorambucil-for-spontaneous-glioma-a-phase-i-clinical-trial
#19
R Timothy Bentley, Stephanie A Thomovsky, Margaret A Miller, Deborah W Knapp, Aaron A Cohen-Gadol
INTRODUCTION: Metronomic (daily low-dose) chlorambucil requires further study before implementation in human glioma. OBJECTIVE: Investigate the distribution and safety of metronomic chlorambucil in naturally occurring canine glioma. METHODS: Eight client-owned (pet) dogs with newly diagnosed spontaneous glioma were prospectively enrolled. Chlorambucil was administered preoperatively at 4 mg/m2 q 24hr for ≥ 3 days, and continued postoperatively until death or dose-limiting adverse events...
May 15, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29773357/acute-transverse-myelitis-following-an-opsoclonus-myoclonus-syndrome-an-unusual-presentation
#20
Thomas Simon, Emmanuel Cheuret, Léa Fiedler, Catherine Mengelle, Eloïse Baudou, Kumaran Deiva
Opso-myoclonus syndrome (OMS) is a very rare and severe condition. Ataxia, opsoclonus, myoclonus and/or behavioral and sleeping disturbances define that autoimmune disorder syndrome which is paraneoplastic or triggered by an infection. Here, we report a 3 year-old immunocompetent boy who developed an atypical OMS which was later complicated by an acute transverse myelitis. Screening for neuroblastoma was negative and extensive infectious screening revealed an active HHV-6 infection confirmed by blood and cerebrospinal fluid PCR...
May 8, 2018: European Journal of Paediatric Neurology: EJPN
keyword
keyword
17334
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"