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https://www.readbyqxmd.com/read/28804760/autopsy-case-of-the-c12orf65-mutation-in-a-patient-with-signs-of-mitochondrial-dysfunction
#1
Hideaki Nishihara, Masatoshi Omoto, Masaki Takao, Yujiro Higuchi, Michiaki Koga, Motoharu Kawai, Hiroo Kawano, Eiji Ikeda, Hiroshi Takashima, Takashi Kanda
OBJECTIVE: To describe the autopsy case of a patient with a homozygous 2-base deletion, c171_172delGA (p.N58fs), in the C12orf65 gene. METHODS: We described the clinical history, neuroimaging data, neuropathology, and genetic analysis of the patients with C12orf65 mutations. RESULTS: The patient was a Japanese woman with a history of delayed psychomotor development, primary amenorrhea, and gait disturbance in her 20s. She was hospitalized because of respiratory failure at the age of 60...
August 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28783942/codeine-precipitating-serotonin-syndrome-in-a-patient-in-therapy-with-antidepressant-and-triptan
#2
Giulia Milano, Werner Maria Natta, Alfredo Bello, Antonietta Martelli, Francesca Mattioli
The serotonin syndrome is a serioius medical condition due due to an intensive stimulation of setonin receptors. It is a rare, but severe, consequence of interaction between serotomimetic agents. This is a report of a 70-year-old woman steadily in therapy with venlafaxine and rizatriptan for migraine and major depressive syndrome. She was admitted to neurology unit for decreased light reflex with miotic pupils, global hyperreflexia, tremor, anxiety, ataxia and incoordination. The patient was diagnosed as a probable case of serotonin syndrome due to a pharmacological interaction between venlafaxine and rizatriptan trigged by opioid intake...
August 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28781913/nursing-review-section-of-surgical-neurology-international-evaluation-of-cervical-disc-disease-and-when-surgery-is-warranted
#3
REVIEW
Nancy E Epstein, Renee D Hollingsworth
BACKGROUND: Patients with cervical disc disease may present with radiculopathy (root compression), myelopathy (cord compression), or myeloradiculopathy. These complaints must be correlated with x-ray, magnetic resonance (MR) imaging, and computed tomographic (CT) scans. Although most patients can be managed nonsurgically, those with significant neurological deficits and larger disc herniations may require surgery. METHODS: The symptoms of cervical radiculopathy include pain radiating down one or both arms, while myelopathy may result in more diffuse numbness tingling or weakness in the upper and/or lower extremities...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28756934/postoperative-anticholinergic-poisoning-concealed-complications-of-a-commonly-used-medication
#4
Xiao Chi Zhang, Natalija Farrell, Thomas Haronian, Jason Hack
BACKGROUND: Scopolamine is a potent anticholinergic compound used commonly for the prevention of postoperative nausea and vomiting. Scopolamine can cause atypical anticholinergic syndromes due to its prominent central antimuscarinic effects. CASE REPORT: A 47-year-old female presented to the emergency department (ED) 20 h after hospital discharge for a right-knee meniscectomy, with altered mental status (AMS) and dystonic extremity movements that began 12 h after her procedure...
July 27, 2017: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28755567/microcephaly-and-zika-virus-neuroradiological-aspects-clinical-findings-and-a-proposed-framework-for-early-evaluation-of-child-development
#5
Nelci Adriana Cicuto Ferreira Rocha, Ana Carolina de Campos, Fellipe Cicuto Ferreira Rocha, Fernanda Pereira Dos Santos Silva
BACKGROUND AND AIMS: As the recent outbreak of microcephaly cases caused by Zika virus has been declared a global health emergency, providing assessment guidelines for multidisciplinary teams providing early developmental screening and stimulation to infants with microcephaly is much needed. Thus, the aim of this manuscript is to provide an overview on what is known about neuroradiological aspects and clinical findings in infants with microcephaly caused by Zika virus and to propose a framework for early evaluation of child development...
July 26, 2017: Infant Behavior & Development
https://www.readbyqxmd.com/read/28624897/corrosion-of-harrington-rod-in-idiopathic-scoliosis-long-term-effects
#6
Beth Sherman, Tanya Crowell
PURPOSE: Metal implants have been used to treat adolescent idiopathic scoliosis since the 1960s. Only recently, however, it has the issue of metal-bone breakdown secondary to metal corrosion in situ come to light, raising concerns of possible long-term complications from the resulting metallosis and inflammation of spinal tissues. We present a case of a patient with neurological deficit, pain, and disability with Harrington rod in place for over 30 years, to bring attention to the issue of bio-corrosion of metal implants and its effect on human tissue...
June 17, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28597570/pharmaco-toxicological-effects-of-the-novel-third-generation-fluorinate-synthetic-cannabinoids-5f-adbinaca-ab-fubinaca-and-sts-135-in-mice-in-vitro-and-in-vivo-studies
#7
Isabella Canazza, Andrea Ossato, Fabrizio Vincenzi, Adolfo Gregori, Fabiana Di Rosa, Federica Nigro, Alessandro Rimessi, Paolo Pinton, Katia Varani, Pier Andrea Borea, Matteo Marti
INTRODUCTION: 5F-ADBINACA, AB-FUBINACA, and STS-135 are 3 novel third-generation fluorinate synthetic cannabinoids that are illegally marketed as incense, herbal preparations, or research chemicals for their psychoactive cannabis-like effects. METHODS: The present study aims at investigating the in vitro and in vivo pharmacological activity of 5F-ADBINACA, AB-FUBINACA, and STS-135 in male CD-1 mice, comparing their in vivo effects with those caused by the administration of Δ(9) -THC and JWH-018...
June 9, 2017: Human Psychopharmacology
https://www.readbyqxmd.com/read/28589049/chronic-lymphocytic-inflammation-with-pontine-perivascular-enhancement-responsive-to-steroids-with-cranial-and-caudal-extension
#8
Mahmood Mubasher, Aseel Sukik, Ahmed Hassan El Beltagi, Ali Rahil
A 23-year-old lady presented with vertigo and imbalance in walking, blurring of vision, diplopia, and headache, in addition to numbness in the lower limbs over a period of six days. On examination patient had nystagmus, ataxia, positive Romberg test, and hyperreflexia. MRI examination of the brain and spinal cord showed evidence of faint bright signal intensity foci in T2/FLAIR involving bilateral cerebral hemispheres, subcortical deep white matter, bilateral thalami, posterior pons and left brachium pontis, and basal ganglia, with small nodular enhancement that aligned along curvilinear structures; those lesions also were apparent along the spinal cord at multiple levels...
2017: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/28557247/european-consensus-on-the-concepts-and-measurement-of-the-pathophysiological-neuromuscular-responses-to-passive-muscle-stretch
#9
J C van den Noort, L Bar-On, E Aertbeliën, M Bonikowski, S M Braendvik, E W Broström, A I Buizer, J H Burridge, A van Campenhout, B Dan, J F Fleuren, S Grunt, F Heinen, H L Horemans, C Jansen, A Kranzl, B K Krautwurst, M van der Krogt, S Lerma Lara, C M Lidbeck, J-P Lin, I Martinez, C Meskers, D Metaxiotis, G Molenaers, D A Patikas, O Rémy-Néris, K Roeleveld, A P Shortland, J Sikkens, L Sloot, R J Vermeulen, C Wimmer, A S Schröder, S Schless, J G Becher, K Desloovere, J Harlaar
BACKGROUND AND PURPOSE: To support clinical decision-making in central neurological disorders, a physical examination is used to assess responses to passive muscle stretch. However, what exactly is being assessed is expressed and interpreted in different ways. A clear diagnostic framework is lacking. Therefore, the aim was to arrive at unambiguous terminology about the concepts and measurement around pathophysiological neuromuscular response to passive muscle stretch. METHODS: During two consensus meetings, 37 experts from 12 European countries filled online questionnaires based on a Delphi approach, followed by plenary discussion after rounds...
July 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#10
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
https://www.readbyqxmd.com/read/28520722/altered-detrusor-contractility-in-mptp-treated-common-marmosets-with-bladder-hyperreflexia
#11
Sara Pritchard, Michael J Jackson, Atsuko Hikima, Lisa Lione, Christopher D Benham, K Ray Chaudhuri, Sarah Rose, Peter Jenner, Mahmoud M Iravani
Bladder hyperreflexia is a common non-motor feature of Parkinson's disease. We now report on the contractility of the isolated primate detrusor strips devoid of nerve input and show that following MPTP, the amplitude and frequency of spontaneous contraction was increased. These responses were unaffected by dopamine D1 and D2 receptor agonists A77636 and ropinirole respectively. Contractions by exogenous carbachol, histamine or ATP were similar and no differences in the magnitude of noradrenaline-induced relaxation were seen in detrusor strip obtained from normal and MPTP-treated common marmosets (Callithrix jacchus)...
2017: PloS One
https://www.readbyqxmd.com/read/28495596/the-role-of-omega-3-and-omega-9-fatty-acids-for-the-treatment-of-neuropathic-pain-after-neurotrauma
#12
REVIEW
Iriana Galán-Arriero, Diego Serrano-Muñoz, Julio Gómez-Soriano, Carlos Goicoechea, Julian Taylor, Ana Velasco, Gerardo Ávila-Martín
Omega-3 polyunsaturated fatty acids (PUFAs), such as docosaexaenoic acid (DHA) and eicosapentaenoic acid (EPA), mediate neuroactive effects in experimental models of traumatic peripheral nerve and spinal cord injury. Cellular mechanisms of PUFAs include reduced neuroinflammation and oxidative stress, enhanced neurotrophic support, and activation of cell survival pathways. Bioactive Omega-9 monounsaturated fatty acids, such as oleic acid (OA) and 2-hydroxy oleic acid (2-OHOA), also show therapeutic effects in neurotrauma models...
May 8, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28488683/progressive-hereditary-spastic-paraplegia-caused-by-a-homozygous-ky-mutation
#13
Yuval Yogev, Yonatan Perez, Iris Noyman, Anwar Abu Madegem, Hagit Flusser, Zamir Shorer, Eugene Cohen, Leonid Kachko, Analia Michaelovsky, Ruth Birk, Arie Koifman, Max Drabkin, Ohad Wormser, Daniel Halperin, Rotem Kadir, Ohad S Birk
Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability. Nerve conduction velocity, electromyography and head and spinal cord magnetic resonance imaging were normal in tested subjects. Muscle biopsy showed occasional central nuclei and fiber size variability with small angular fibers...
August 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28436534/a-novel-trpa1-variant-is-associated-with-carbamazepine-responsive-cramp-fasciculation-syndrome
#14
M J Nirenberg, R Chaouni, T M Biller, R M Gilbert, C Paisán-Ruiz
Cramp-fasciculation syndrome (CFS) is a rare muscle hyperexcitability syndrome that presents with muscle cramps, fasciculations, and stiffness, as well as pain, fatigue, anxiety, hyperreflexia, and paresthesias. Although familial cases have been reported, a genetic etiology has not yet been identified. We performed whole-exome sequencing followed by validation and cosegregation analyses on a father-son pair with CFS. Both subjects manifested other hypersensitivity-hyperexcitability symptoms, including asthma, gastroesophageal reflux, migraine, restless legs syndrome, tremor, cold hyperalgesia, and cardiac conduction defects...
April 24, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28345801/zc4h2-deletions-can-cause-severe-phenotype-in-female-carriers
#15
Cristina Zanzottera, Donatella Milani, Enrico Alfei, Ambra Rizzo, Stefano D'Arrigo, Susanna Esposito, Chiara Pantaleoni
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and peripheral nervous system involvement, such as spasticity, hyperreflexia, muscle weakness, and arthrogryposis. Female carriers are usually described as asymptomatic or only mildly affected. Here, we report on a girl carrying a de novo deletion of ZC4H2 detected by array-CGH analysis...
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28320181/ataxic-form-of-autosomal-recessive-pex10-related-peroxisome-biogenesis-disorders-with-a-novel-compound-heterozygous-gene-mutation-and-characteristic-clinical-phenotype
#16
Toru Yamashita, Jun Mitsui, Nobuyuki Shimozawa, Shigeo Takashima, Hiroshi Umemura, Kota Sato, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Takashi Matsukawa, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Shinichi Morishita, Shoji Tsuji, Koji Abe
Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28297693/-a-case-of-central-type-disc-herniation-at-the-c7-t1-level-presenting-with-myelopathy
#17
Masatoshi Yunoki, Takahiro Kanda, Kenta Suzuki, Atsuhito Uneda, Koji Hirashita, Kimihiro Yoshino
In contrast to other levels of upper disc spaces, the Luschka joints are usually absent at the C7/T1 disc space. Therefore, it has been reported that the C7/T1 disc herniation is prone to herniate laterally rather than centrally. In this manuscript, we describe an extremely rare central-type disc herniation at the C7/T1 level presented with myelopathy. A 76-year-old man presented with a 20-day history of progressive gait disturbance. Physical examination revealed bilateral lower extremity hyperreflexia and mild foot numbness with no upper extremity motor weakness or sensory disturbance...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28258180/rare-case-of-severe-serotonin-syndrome-leading-to-bilateral-compartment-syndrome
#18
Verena Clarissa Samara, Judith Warner
The term 'serotonin syndrome' describes a constellation of symptoms caused by serotonergic overstimulation. Its characteristic clinical presentation consists of encephalopathy, neuromuscular signs and autonomic hyperactivity. After removal of the offending agent, the clinical course is usually self-limited but can occasionally lead to severe symptoms. We report the case of a 68-year-old woman who presented emergently with encephalopathy. Home medications included paroxetine and dextroamphetamine/amphetamine...
March 3, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28255305/xeroderma-pigmentosum-with-severe-neurological-manifestations-de-sanctis-cacchione-syndrome-and-a-novel-xpc-mutation
#19
Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada
Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28235814/differentiating-cognitive-impairment-due-to-corticobasal-degeneration-and-alzheimer-disease
#20
Gregory S Day, Tae Sung Lim, Jason Hassenstab, Alison M Goate, Elizabeth A Grant, Catherine M Roe, Nigel J Cairns, John C Morris
OBJECTIVE: To identify clinical features that reliably differentiate individuals with cognitive impairment due to corticobasal degeneration (CBD) and Alzheimer disease (AD). METHODS: Clinical features were compared between individuals with autopsy-proven CBD (n = 17) and AD (n = 16). All individuals presented with prominent cognitive complaints and were evaluated annually with semistructured interviews, detailed neurologic examinations, and neuropsychological testing...
March 28, 2017: Neurology
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