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Functional neurologic symptom

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https://www.readbyqxmd.com/read/28334820/high-resolution-time-course-mapping-of-early-transcriptomic-molecular-and-cellular-phenotypes-in-huntington-s-disease-cag-knock-in-mice-across-multiple-genetic-backgrounds
#1
Seth A Ament, Jocelynn R Pearl, Andrea Grindeland, Jason St Claire, John C Earls, Marina Kovalenko, Tammy Gillis, Jayalakshmi Mysore, James F Gusella, Jong-Min Lee, Seung Kwak, David Howland, Min Young Lee, David Baxter, Kelsey Scherler, Kai Wang, Donald Geman, Jeffrey B Carroll, Marcy E MacDonald, George Carlson, Vanessa C Wheeler, Nathan D Price, Leroy E Hood
Huntington's disease is a dominantly inherited neurodegenerative disease caused by the expansion of a CAG repeat in the HTT gene. In addition to the length of the CAG expansion, factors such as genetic background have been shown to contribute to the age at onset of neurological symptoms. A central challenge in understanding the disease progression that leads from the HD mutation to massive cell death in the striatum is the ability to characterize the subtle and early functional consequences of the CAG expansion longitudinally...
February 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28330539/-state-of-the-art-work-up-of-dementia-disorder
#2
Steen Gregers Hasselbalch
Early diagnosis of a dementia disorder is required for early support, treatment and information. A basic programme including history taking, somatic and neurological examination, blood screening and a structural scan will suffice in typical cases. For patients with uncertain or atypical symptoms or disease course, supplementary investigations are warranted, including biomarkers in cerebrospinal fluid, functional imaging and neuropsychological testing. Also, imaging of specific protein accumulations in Alzheimer's disease may serve to monitor disease progression and effects of interventions...
March 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28330447/cigarette-smoking-is-an-independent-risk-factor-for-post-stroke-delirium
#3
Tae Sung Lim, Jin Soo Lee, Jung Han Yoon, So Young Moon, In Soo Joo, Kyoon Huh, Ji Man Hong
BACKGROUND: Post-stroke delirium is a common problem in the care of stroke patients, and is associated with longer hospitalization, high short-term mortality, and an increased need for long-term care. Although post-stroke delirium occurs in approximately 10 ~ 30% of patients, little is known about the risk factors for post-stroke delirium in patients who experience acute stroke. METHODS: A total of 576 consecutive patients who experienced ischemic stroke (mean age, 65...
March 23, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28330012/mechanical-thrombectomy-for-minor-and-mild-stroke-patients-harboring-large-vessel-occlusion-in-the-anterior-circulation-a-multicenter-case-control-study
#4
Cyril Dargazanli, Caroline Arquizan, Arturo Consoli, Benjamin Gory, Omer Eker, Xavier Ayrignac, Jean-Pierre Decroix, Astrid Corlobé, Isabelle Mourand, Grégory Gascou, Mahmoud Charif, Julien Labreuche, Alain Duhamel, Paul-Emile Labeyrie, Hocine Redjem, Gabriele Ciccio, Stanislas Smajda, Carlos Riquelme, Oguzhan Coskun, Jean-Philippe Desilles, Frédéric Bourdain, Roberto Riva, Mikael Obadia, Francis Turjman, Georges Rodesch, Pierre Labauge, Alain Bonafé, Mikael Mazighi, Vincent Costalat, Michel Piotin, Raphaël Blanc, Bertrand Lapergue
BACKGROUND AND PURPOSE: Proximal large vessel occlusion (LVO) is present in up to 30% of minor strokes. There is no proven effectiveness of MT in the subgroup of minor stroke with LVO in the anterior circulation and data about mechanical thrombectomy (MT) in this subgroup of patients are sparse, with optimal management of these patients being yet not definitely addressed. The purpose of this case-control study was to evaluate MT in patients suffering from acute ischemic stroke (AIS) and LVO in the anterior circulation, presenting with minor to mild stroke symptoms (NIHSS<8)...
March 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#5
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326890/functional-and-molecular-correlates-following-single-and-repeated-rat-closed-head-concussion-indices-of-vulnerability-following-brain-injury
#6
Andrea Mountney, Angela Boutte, Casandra M Cartagena, William J Flerlage, David Johnson, Chanyang Rho, Xi-Chun M Lu, Angela M Yarnell, Sean R Marcsisin, Jason Sousa, Chau Vuong, Victor E Zottig, Lai Yee Leung, Ying Deng-Bryant, Janice Gilsdorf, Frank C Tortella, Deborah A Shear
Closed-head concussive injury is one of the most common causes of traumatic brain injury (TBI). Isolated concussions frequently produce acute neurological impairments; however, individuals typically recover spontaneously within a short time frame. In contrast, brain injuries resulting from multiple concussions can result in cumulative damage and elevated risk of developing chronic brain pathologies, including chronic traumatic encephalopathy (CTE). Increased attention has focused on identification of diagnostic markers that can prognostically serve as indices of brain health after injury, revealing the temporal profile of vulnerability to a second insult...
March 22, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28325921/zika-virus-genome-biology-and-molecular-pathogenesis
#7
REVIEW
Anyou Wang, Stephanie Thurmond, Leonel Islas, Kingyung Hui, Rong Hai
Zika virus (ZIKV) is an emerging RNA virus in the widespread Flavivirus genus. Recently, ZIKV has rapidly spread around the world and has been implicated in human disease, including neurological disorders, triggering public and scientific attention. Understanding how ZIKV causes disease is the highest priority, yet little is known about this virus. Here we examine the currently published data from ZIKV studies to provide the latest understanding of ZIKV genome biology and molecular pathogenesis. The ZIKV genome evolved rapidly from the Flavivirus genus and diverged from the members of this genus, even within the dengue virus cluster to which ZIKV belongs...
March 22, 2017: Emerging Microbes & Infections
https://www.readbyqxmd.com/read/28325788/decompression-illness-with-hypovolemic-shock-and-neurological-failure-symptoms-after-two-risky-dives-a-case-report
#8
Sebastian Klapa, Johannes Meyne, Wataru Kähler, Frauke Tillmans, Henning Werr, Andreas Binder, Andreas Koch
Hypovolemia is known to be a predisposing factor of decompression illness (DCI) while diving. The typical clinically impressive neurological symptoms of DCI may distract from other symptoms such as an incipient hypovolemic shock. We report the case of a 61-year-old male Caucasian, who presented with an increasing central and peripheral neural failure syndrome and massive hypovolemia after two risky dives. Computed tomography (CT) scans of the chest and Magnetic resonance imaging scans of the head revealed multiple cerebral and pulmonary thromboembolisms...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28321191/palmitoylethanolamide-reduces-neuropsychiatric-behaviors-by-restoring-cortical-electrophysiological-activity-in-a-mouse-model-of-mild-traumatic-brain-injury
#9
Francesca Guida, Serena Boccella, Monica Iannotta, Danilo De Gregorio, Catia Giordano, Carmela Belardo, Rosaria Romano, Enza Palazzo, Maria A Scafuro, Nicola Serra, Vito de Novellis, Francesco Rossi, Sabatino Maione, Livio Luongo
Traumatic brain injury (TBI) represents a major public health problem, which is associated with neurological dysfunction. In severe or moderate cases of TBI, in addition to its high mortality rate, subjects may encounter diverse behavioral dysfunctions. Previous reports suggest that an association between TBI and chronic pain syndromes tends to be more common in patients with mild forms of brain injury. Despite causing minimal brain damage, mild TBI (mTBI) often leads to persistent psychologically debilitating symptoms, which can include anxiety, various forms of memory and learning deficits, and depression...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28318959/utility-of-items-of-baseline-national-institutes-of-health-stroke-scale-as-predictors-of-functional-outcomes-at-three-months-after-mild-ischemic-stroke
#10
Jay Chol Choi, Beom Joon Kim, Moon-Ku Han, Soo Joo Lee, Kyusik Kang, Jong-Moo Park, Sang-Soon Park, Tai Hwan Park, Yong-Jin Cho, Keun-Sik Hong, Kyung Bok Lee, Jun Lee, Wi-Sun Ryu, Dong-Eog Kim, Hyun-Wook Nah, Dae-Hyun Kim, Jae-Kwan Cha, Joon-Tae Kim, Kang-Ho Choi, Mi Sun Oh, Kyung-Ho Yu, Byung-Chul Lee, Myung Suk Jang, Ji Sung Lee, Juneyoung Lee, Hee-Joon Bae
BACKGROUND: Predicting outcomes of acute stroke patients initially presenting with mild neurologic deficits is crucial in decision making regarding thrombolytic therapy. We examined the utility of individual National Institutes of Health Stroke Scale (NIHSS) score items or clusters of items as predictors of functional outcomes at 3 months after mild stroke. METHODS: Using a multicenter stroke registry database, we identified patients with acute ischemic stroke who presented within 4...
March 15, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/28315960/intravenous-thrombolysis-for-ischemic-stroke-in-the-golden-hour-propensity-matched-analysis-from-the-sits-east-registry
#11
Georgios Tsivgoulis, Aristeidis H Katsanos, Pavla Kadlecová, Anna Czlonkowska, Adam Kobayashi, Miroslav Brozman, Viktor Švigelj, Laszlo Csiba, Klara Fekete, Janika Kõrv, Vida Demarin, Aleksandras Vilionskis, Dalius Jatuzis, Yakup Krespi, Chrissoula Liantinioti, Sotirios Giannopoulos, Robert Mikulik
As there are scarce data regarding the outcomes of acute ischemic stroke (AIS) patients treated with intravenous thrombolysis (IVT) within 60 min from symptom onset ("golden hour"), we sought to compare outcomes between AIS patients treated within [GH(+)] and outside [GH(-)] the "golden hour" by analyzing propensity score matched data from the SITS-EAST registry. Clinical recovery (CR) at 2 and 24 h was defined as a reduction of ≥10 points on NIHSS-score or a total NIHSS-score of ≤3 at 2 and 24 h, respectively...
March 18, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28314977/isolated-vestibular-syndromes-due-to-brainstem-and-cerebellar-lesions
#12
Sung-Hee Kim, Hyo Jung Kim, Ji-Soo Kim
Dizziness/vertigo is the most common symptoms of posterior circulation strokes. Isolated vestibular symptoms and signs without other neurologic deficits have been found in infarctions involving the brainstem and cerebellum. In the brainstem, infarctions responsible for isolated vestibular syndrome are usually restricted to the dorsal portion that contains the vestibular nucleus and the nucleus prepositus hypoglossi. Cerebellar lesions confined to the flocculus, tonsil, and nodulus also produce isolated vertigo and imbalance...
March 17, 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28302865/management-of-patients-with-functional-neurological-symptoms-a-single-centre-randomised-controlled-trial
#13
Marc Pleizier, Rob J de Haan, Marinus Vermeulen
OBJECTIVE: Is health-related quality of life 12 months after randomisation in participants with functional neurological symptoms better after discussion of the diagnosis by trained neurologists who schedule at least two follow-up visits (intervention group) than after the same discussion of the diagnosis by these neurologists and immediate referral to the general practitioner (control group)? METHODS: A single-centre randomised controlled trial at one academic outpatient department of neurology...
March 16, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28298428/autoantibodies-to-synaptic-receptors-and-neuronal-cell-surface-proteins-in-autoimmune-diseases-of-the-central-nervous-system
#14
REVIEW
Josep Dalmau, Christian Geis, Francesc Graus
Investigations in the last 10 years have revealed a new category of neurological diseases mediated by antibodies against cell surface and synaptic proteins. There are currently 16 such diseases all characterized by autoantibodies against neuronal proteins involved in synaptic signaling and plasticity. In clinical practice these findings have changed the diagnostic and treatment approach to potentially lethal, but now treatable, neurological and psychiatric syndromes previously considered idiopathic or not even suspected to be immune-mediated...
April 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28298013/does-subjective-improvement-in-adults-with-intracranial-arachnoid-cysts-justify-surgical-treatment
#15
Katrin Rabiei, Per Hellström, Mats Högfeldt-Johansson, Magnus Tisell
OBJECTIVE Subjective improvement of patients who have undergone surgery for intracranial arachnoid cysts has justified surgical treatment. The current study aimed to evaluate the outcome of surgical treatment for arachnoid cysts using standardized interviews and assessments of neuropsychological function and balance. The relationship between arachnoid cyst location, postoperative improvement, and arachnoid cyst volume was also examined. METHODS The authors performed a prospective, population-based study. One hundred nine patients underwent neurological, neuropsychological, and physiotherapeutic examinations...
February 17, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28297066/cerebral-hyperperfusion-and-other-consequences-of-hemodialysis-central-vein-catheters
#16
Haimanot Wasse
While central venous stenosis is a common consequence of protracted central venous catheter use, intracardiac device transvenous leads, and central venous instrumentation, the majority of patients who develop symptomatic central venous stenosis present with characteristic venous hypertension. However, some patients may develop an abnormal intracranial venous circulation and present with neurologic symptoms. This paper will summarize findings from case reports that describe the neurologic sequelae that can develop as a result of central venous stenosis/occlusion in end-stage renal disease patients with a functional arteriovenous access...
March 6, 2017: Journal of Vascular Access
https://www.readbyqxmd.com/read/28291217/-early-postoperative-results-of-surgical-treatment-of-patients-with-anterior-clinoidal-meningiomas
#17
S V Chernov, D A Rzaev, A V Kalinovsky, A B Dmitriev, A R Kasymov, A V Zotov, E V Gormolysova, E K Uzhakova
Resection of anterior clinoidal meningiomas is a challenging task due to their localization, frequent involvement of the major cerebral arteries and cranial nerves, a high risk of postoperative neurological deficits, and low radicalness of surgery. AIM: To evaluate the radicalness of microsurgical removal and a neurological deficit in the early postoperative period in patients with anterior clinoidal meningiomas. MATERIAL AND METHODS: A total of 35 patients with anterior clinoidal meningiomas underwent surgery at the Department of Neurooncology of the Novosibirsk Federal Neurosurgical Center in the period from 2013 to July 2016...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28289649/hypothermia-presenting-in-wernicke-encephalopathy-a-case-report
#18
Seok Hyun Hong, Ju Sun Oh, Chang Hyun Lee, Jae Ho Oh
Wernicke encephalopathy (WE) is a neurologic disorder characterized by clinical symptoms, such as nystagmus, ataxia, and mental confusion. Hypothermia in patients with WE is a rare complication, and its pathogenic mechanism and therapy are yet to be ascertained. Herein, we presented a case of a 61-year-old man who was diagnosed with WE 3 months earlier. We investigated the cause of hypothermia (35.0℃) that occurred after an enema (bowel emptying). Brain magnetic resonance imaging revealed mammillary body and hypothalamus atrophy...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28288921/therapy-for-recurrent-high-grade-gliomas-results-of-a-prospective-multicenter-study-on-health-related-quality-of-life
#19
Linda Stöckelmaier, Mirjam Renovanz, Jochem König, Katrin Nickel, Anne-Katrin Hickmann, Regine Mayer-Steinacker, Minou Nadji-Ohl, Oliver Ganslandt, Lars Bullinger, Christian Rainer Wirtz, Jan Coburger
OBJECTIVE: To assess impact of therapy on patients' health-related quality of life (HRQoL) in recurrent high-grade glioma (HGG) in an unselected cohort. METHODS: In this prospective multicenter study, we analyzed EORTC QLQ-C30 and BN20 questionnaires of 92 patients within one year after diagnosis of tumor recurrence of a HGG and respective treatment. We evaluated the influence of re-radiation, second and third-line chemotherapies and number of recurrent surgeries on sum scores for functioning, symptoms and total score as well as on sub scores for functioning and neurological symptoms using multivariate mixed models and descriptive statistics...
March 10, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28286494/clinical-practice-evidence-based-recommendations-for-the-treatment-of-cervical-dystonia-with-botulinum-toxin
#20
REVIEW
Maria Fiorella Contarino, Joost Van Den Dool, Yacov Balash, Kailash Bhatia, Nir Giladi, Johannes H Koelman, Annemette Lokkegaard, Maria J Marti, Miranda Postma, Maja Relja, Matej Skorvanek, Johannes D Speelman, Evelien Zoons, Joaquim J Ferreira, Marie Vidailhet, Alberto Albanese, Marina A J Tijssen
Cervical dystonia (CD) is the most frequent form of focal dystonia. Symptoms often result in pain and functional disability. Local injections of botulinum neurotoxin are currently the treatment of choice for CD. Although this treatment has proven effective and is widely applied worldwide, many issues still remain open in the clinical practice. We performed a systematic review of the literature on botulinum toxin treatment for CD based on a question-oriented approach, with the aim to provide practical recommendations for the treating clinicians...
2017: Frontiers in Neurology
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