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https://www.readbyqxmd.com/read/28433979/lethal-high-acute-disseminated-encephalomyelitis-adem-triggered-by-toxic-effect-of-synthetic-cannabinoid-black-mamba
#1
Kiran Samra, Ian S Boon, Gregory Packer, Saiju Jacob
A previously well 25-year-old man presented with agitation, double incontinence and left-sided incoordination. His symptoms started after smoking a synthetic cannabinoid (black mamba) 5 days earlier. Over 48 hours, he developed aphasia, generalised hypertonia, hyper-reflexia and dense left hemiparesis. This progressed to profuse diaphoresis, fever, tachycardia, hypertension and a possible seizure necessitating admission to the intensive care unit. CT head and cerebrospinal fluid analysis were unremarkable...
April 22, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28417072/atypical-juvenile-presentation-of-gm2-gangliosidosis-ab-in-a-patient-compound-heterozygote-for-c-259g%C3%A2-%C3%A2-t-and-c-164c%C3%A2-%C3%A2-t-mutations-in-the-gm2a-gene
#2
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, France Gauvin, Carlos R Morales, Grant A Mitchell, Alexey V Pshezhetsky
GM2-gangliosidosis, AB variant is an extremely rare autosomal recessive inherited disorder caused by mutations in the GM2A gene that encodes GM2 ganglioside activator protein (GM2AP). GM2AP is necessary for solubilisation of GM2 ganglioside in endolysosomes and its presentation to β-hexosaminidase A. Conversely GM2AP deficiency impairs lysosomal catabolism of GM2 ganglioside, leading to its storage in cells and tissues. We describe a 9-year-old child with an unusual juvenile clinical onset of GM2-gangliosidosis AB...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28378817/severe-neurodegeneration-progressive-cerebral-volume-loss-and-diffuse-hypomyelination-associated-with-a-homozygous-frameshift-mutation-in-cstb
#3
Alan Brien, Christian R Marshall, Susan Blaser, Peter N Ray, Grace Yoon
Mutations of the cystatin B gene (CSTB; OMIM 601145) are known to cause Unverricht-Lundborg disease or progressive myoclonic epilepsy-1A (EPM1A, MIM #254800). Most patients are homozygous for an expanded (>30) dodecamer repeat in the promoter region of CSTB, or are compound heterozygotes for the dodecamer repeat and a point mutation. We report two adolescent sisters born to consanguineous parents of Sri Lankan descent who presented with profound global developmental delay, microcephaly, cortical blindness and axial hypotonia with appendicular hypertonia...
April 5, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28377349/-factors-affecting-recovery-of-consciousness-in-patients-with-disorders-of-consciousness-following-brain-trauma-a-logistic-regression-analysis
#4
Qing Lin, Qiu-You Xie, Yan-Bin He, Yan Chen, Xiao-Xiao Ni, Ye-Qun Guo, Yan Shen, Rong-Hao Yu
OBJECTIVE: To explore the factors that affect the recovery of consciousness in patients with disorders of consciousness following brain trauma. METHODS: We analyzed the data of 114 patients with disorders of consciousness following brain trauma admitted for rehabilitation. Bilateral logistic regression analysis was used to explore the factors that affected the recovery of the patients' consciousness. A logistic regression model was established and the ROC curve was drawn to obtain the optimal threshold of the prognostic model...
March 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28347765/spinal-cord-injury-in-hypertonic-newborns-after-antenatal-hypoxia-ischemia-in-a-rabbit-model-of-cerebral-palsy
#5
Alexander Drobyshevsky, Katharina A Quinlan
While antenatal hypoxia-ischemia (H-I) is a well-established cause of brain injury, the effects of H-I on the spinal cord remain undefined. This study examined whether hypertonia in rabbits was accompanied by changes in spinal architecture. Rabbit dams underwent global fetal H-I at embryonic day 25 for 40min. High resolution diffusion tensor imaging was performed on fixed neonatal CNS. Fractional anisotropy (FA) and regional volumetric measurements were compared between kits with and without hypertonia after H-I and sham controls using Tract Based Spatial Statistics...
March 24, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28347207/evaluation-of-the-effectiveness-of-transcranial-direct-current-stimulation-tdcs-and-psychosensory-stimulation-through-docs-scale-in-a-minimally-conscious-subject
#6
Danilo Dimitri, Daniela De Filippis, Valentina Galetto, Marina Zettin
The aim of our study was to assess the effectiveness of transcranial direct current stimulation (tDCS) on alertness improvement in a patient in a minimally conscious state (MCS) by means of disorders of consciousness scale combined with psycho-sensory stimulation. The effects of tDCS on muscle hypertonia through the Ashworth scale were also examined. tDCS was performed through a two-channel intra-cephalic stimulator. After stimulation, the patient followed a psychosensory stimulation training. Results pointed out an increase in DOCunit score, as well as an increase in alertness maintenance and an improvement in muscle hypertonia, although a MCS state persisted...
March 27, 2017: Neurocase
https://www.readbyqxmd.com/read/28319872/intrathecal-baclofen-bolus-reduces-exaggerated-extensor-coactivation-during-pre-swing-and-early-swing-of-gait-after-acquired-brain-injury
#7
John W Chow, Stuart A Yablon, Dobrivoje S Stokic
OBJECTIVE: To characterize the concurrent activation of rectus femoris (RF) and medial gastrocnemius (MG) muscles (extensor coactivation) during gait in subjects with pronounced resting hypertonia after acquired brain injury (ABI) and examine changes after intrathecal baclofen (ITB) bolus injection. METHODS: Magnitude and duration of extensor coactivation during different phases of gait were assessed by recording gait kinematics and activity in bilateral RF and MG muscles in 18 controls and 18 ABI subjects before and at 2, 4, and 6h after a 50-μg ITB injection...
May 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28268656/pendulum-test-measure-correlates-with-gait-parameters-in-children-with-cerebral-palsy
#8
M Lotfian, M M Mirbagheri, M R Kharazi, F Dadashi, R Nourian, A Irani, A Mirbagheri
Individuals with cerebral palsy (CP) usually suffer from different impairments including gait impairment and spasticity. Spastic hypertonia is a defining feature of spasticity and manifests as a mechanical abnormality. The objective of this study was to determine the relationship between spastic hypertonia and gait impairments in spastic children with CP, addressing an important controversial issue. Spastic hypertonia was quantified using the pendulum test. The gait impairments were evaluated using the motion capture system in a gait laboratory...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28243183/multidisciplinary-management-of-sexual-dysfunction-perineal-pain-and-elimination-dysfunction-in-a-woman-with-multiple-sclerosis
#9
Michela Miletta, Fabrizio Bogliatto, Leonardo Bacchio
BACKGROUND: Multiple sclerosis (MS) is a chronic disease that commonly affects young women and is associated with sexual dysfunction (SD) and lower anourogenital dysfunction, which affect quality of life. We evaluated the importance of an integrated multidisciplinary approach in the Lower Female Ano-Uro-Genital Network (LFAUGN) to manage a variety of complex symptoms. METHODS: A 40-year-old woman with MS and primary concerns about perineal pain and SD was treated by a trained midwife from the LFAUGN and a physical therapist after a multidisciplinary diagnostic process that included gynecologic evaluation for perineal pain and SD, physiatric assessment, urologic assessment for bladder retention (BR), and surgical examination for obstructed defecation syndrome (ODS)...
January 2017: International Journal of MS Care
https://www.readbyqxmd.com/read/28226839/pendulum-test-measure-correlates-with-gait-parameters-in-children-with-cerebral-palsy
#10
M Lotfian, M M Mirbagheri, M R Kharazi, F Dadashi, R Nourian, A Irani, A Mirbagheri, M Lotfian, M M Mirbagheri, M R Kharazi, F Dadashi, R Nourian, A Irani, A Mirbagheri, M Lotfian, R Nourian, M M Mirbagheri, A Mirbagheri, A Irani, F Dadashi, M R Kharazi
Individuals with cerebral palsy (CP) usually suffer from different impairments including gait impairment and spasticity. Spastic hypertonia is a defining feature of spasticity and manifests as a mechanical abnormality. The objective of this study was to determine the relationship between spastic hypertonia and gait impairments in spastic children with CP, addressing an important controversial issue. Spastic hypertonia was quantified using the pendulum test. The gait impairments were evaluated using the motion capture system in a gait laboratory...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28180185/precision-therapy-for-a-new-disorder-of-ampa-receptor-recycling-due-to-mutations-in-atad1
#11
Rebecca C Ahrens-Nicklas, George K E Umanah, Neal Sondheimer, Matthew A Deardorff, Alisha B Wilkens, Laura K Conlin, Avni B Santani, Addie Nesbitt, Jane Juulsola, Erica Ma, Ted M Dawson, Valina L Dawson, Eric D Marsh
OBJECTIVE: ATAD1 encodes Thorase, a mediator of α-amino-3-hydroxy-5-methylisoxazole-4-proprionate (AMPA) receptor recycling; in this work, we characterized the phenotype resulting from ATAD1 mutations and developed a targeted therapy in both mice and humans. METHODS: Using exome sequencing, we identified a novel ATAD1 mutation (p.E276X) as the etiology of a devastating neurologic disorder characterized by hypertonia, seizures, and death in a consanguineous family...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28115439/brief-resolved-unexplained-event-new-diagnosis-in-infants
#12
Karen Arane, Ilene Claudius, Ran D Goldman
QUESTION: For many years, the term apparent life-threatening event (ALTE) was associated with sudden infant death syndrome, and parents who described an acute event in their infants were sent to the hospital for admission. I understand that for infants new terminology is recommended. What is the current approach to a near-death experience of an infant? ANSWER: A recent clinical practice guideline revised the name and definition of an ALTE to a brief resolved unexplained event (BRUE)...
January 2017: Canadian Family Physician Médecin de Famille Canadien
https://www.readbyqxmd.com/read/28063749/symmetrical-thalamic-calcification-a-trio-whole-exome-sequencing-negative-series
#13
Kathleen Mary Gorman, John James Aird, Judith Conroy, Deirdre Devaney, Michael Farrell, Mary Dolores King
Symmetrical thalamic calcification or bilateral symmetrical thalamic gliosis presents at delivery with hypertonia, fixed flexion contractures and prominent bulbar signs, without preceding perinatal asphyxia. At post-mortem, there is evidence of bilateral symmetrical selective thalamic neuronal encrustation and gliosis. To date, 27 cases are published with no underlying diagnosis identified. Two affected children from singleton pregnancies were reported and therefore, a genetic cause proposed. No previous reports have performed genetic testing to confirm or reject this hypothesis...
May 2017: Brain & Development
https://www.readbyqxmd.com/read/28018155/neonatal-toxicity-from-escitalopram-use-in-utero-a-case-report
#14
Jessica Degiacomo, Sherry Luedtke
Selective serotonin reuptake inhibitor (SSRI) exposure during pregnancy can result in symptoms of serotonin syndrome or serotonin withdrawal. In contrast to other SSRIs, reports of serotonin behavioral syndrome following in utero exposure to escitalopram and citalopram are limited. We describe a case of suspected toxicity following in utero exposure to 20 mg escitalopram throughout pregnancy. The infant was transferred to our neonatal intensive unit at 9 hours of life for further evaluation of lethargy, weak cry, bradycardia, and non-reactive pupils...
November 2016: Journal of Pediatric Pharmacology and Therapeutics: JPPT: the Official Journal of PPAG
https://www.readbyqxmd.com/read/28005829/reproducible-measurements-of-muscle-characteristics-using-the-myotonpro-device-comparison-between-individuals-with-and-without-paratonia
#15
Bieke Van Deun, Johannes S M Hobbelen, Barbara Cagnie, Birgit Van Eetvelde, Nele Van Den Noortgate, Dirk Cambier
BACKGROUND AND PURPOSE: The MyotonPRO is a portable device that measures muscle tone and biomechanical muscle properties objectively. MyotonPRO has already proven to be effective in measuring muscle properties in healthy and diseased populations. However, to the best of our knowledge, it has never been tested in individuals suffering from paratonia, a form of hypertonia frequently accompanying dementia. The aims of the present study were to (1) compare muscle tone, elasticity, and stiffness between 3 different subpopulations of young and old healthy adults and individuals with paratonia, and (2) investigate the intra- and interrater reproducibility of MyotonPRO measurements of the biceps brachii (BB) muscle in each subpopulation...
December 21, 2016: Journal of Geriatric Physical Therapy
https://www.readbyqxmd.com/read/27967233/new-evidence-for-oxetorone-toxicity
#16
Marie Deguigne, Chloé Bruneau, Ali Touré, Alain Turcant, Gaël Le Roux
CONTEXT: Oxetorone is a serotonin antagonist antimigraine drug but literature relating to its toxic properties is poor. The aim of this study is to describe the toxicological profile of oxetorone and to highlight any relationship between clinical and analytical findings. MATERIALS AND METHODS: This is a retrospective and observational study of cases exposure to oxetorone, reported to the Angers Poison and Toxicovigilance Centre between January 2002 and May 2016...
February 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/27956813/epileptic-encephalopathy-due-to-brat1-pathogenic-variants
#17
COMMENT
Siddharth Srivastava, Sakkubai Naidu
Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
December 2016: Pediatric neurology briefs
https://www.readbyqxmd.com/read/27905657/-toxic-encephalopathy-caused-by-liquefied-gas-exposure-report-of-one-case
#18
Luis Cartier R, Andrés Gallardo V
Liquefied hydrocarbon gas, such as propane is considered safe. However there are reports that voluntary exposure to liquefied gas at least could originate hallucinatory states. We report a 20 years old woman who was found in a coma with extensor muscle hypertonia, brisk tendon reflexes and extensor plantar (Babinski) responses after being exposed to propane gas. The brain magnetic resonance imaging (MRI) showed lesions in both hippocampi and white matter in the oval center. The patient had a normal oxygen saturation of 98%, a carboxyhemoglobin of 1...
August 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/27866810/histological-characterisation-of-visceral-changes-in-a-patient-with-type-2-gaucher-disease-treated-with-enzyme-replacement-therapy
#19
Yuko Tezuka, Mitsumasa Fukuda, Shohei Watanabe, Takeshi Nakano, Kentaro Okamoto, Kazuyo Kuzume, Yoshiaki Yano, Mariko Eguchi, Minenori Ishimae, Eiichi Ishii, Tatsuhiko Miyazaki
Gaucher disease is a lysosomal storage disease caused by deficiency of glucocerebrosidase and accumulation of glucocerebroside. Three major sub-types have been described, type 2 is an acute neurological form that exhibits serious general symptoms and poor prognosis, compared with the other types. This case was a girl diagnosed with type 2 Gaucher disease at 12months of age who presented with poor weight gain from infancy, stridor, hypertonia, hepatosplenomegaly, trismus and an eye movement disorder. Enzyme replacement therapy (ERT) was administered, but she had frequent myoclonus and developmental regression...
November 12, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27824235/radial-shock-wave-therapy-effect-on-pain-and-motor-performance-in-a-paralympic-athlete-a-case-report
#20
Laura Mori, Lucio Marinelli, Elisa Pelosin, Matteo Gambaro, Roberto Trentini, Giovanni Abbruzzese, Carlo Trompetto
BACKGROUND: Recent studies demonstrated the usefulness of Radial Shock Waves Therapy (RSWT) in treating hypertonia in patients affected by cerebral palsy (CP), stroke, and dystonia. RSWT have never been used to treat spasticity in disabled athletes. CASE REPORT: An athlete affected by tetraparesis due to CP underwent three RSWT sessions in a week. We assessed muscular tone using the Modified Ashworth scale (MAS), pain and fatigue experienced during athletic performance with Visual Analogic Scale (VAS) and Borg scale Category-Ratio anchored at number 10 (Borg CR10)...
November 8, 2016: European Journal of Physical and Rehabilitation Medicine
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