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https://www.readbyqxmd.com/read/29778030/retrospective-genotype-phenotype-analysis-in-a-305-patient-cohort-referred-for-testing-of-a-targeted-epilepsy-panel
#1
Andrew N Hesse, Jennifer Bevilacqua, Kritika Shankar, Honey V Reddi
PURPOSE: Epilepsy is a diverse neurological condition with extreme genetic and phenotypic heterogeneity. The introduction of next-generation sequencing into the clinical laboratory has made it possible to investigate hundreds of associated genes simultaneously for a patient, even in the absence of a clearly defined syndrome. This has resulted in the detection of rare and novel mutations at a rate well beyond our ability to characterize their effects. This retrospective study reviews genotype data in the context of available phenotypic information on 305 patients spanning the epileptic spectrum to identify established and novel patterns of correlation...
May 16, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29777902/chemical-characterization-and-cerebroprotective-effect-of-methanolic-root-extract-of-colebrookea-oppositifolia-in-rats
#2
Gollapalle Lakshminarayanashastry Viswanatha, Marikunte V Venkataranganna, Nunna Bheema Lingeswara Prasad, Shylaja Hanumanthappa
ETHNOPHARMACOLOGICAL RELEVANCE: Colebrookea oppositifolia Smith is one of the extensively used plants to treat neurological conditions such as epilepsy by the various ethnic communities in sub-Himalayan regions of India such as Bhoxa, Tharu and nomadic Gujjars. AIM OF THE STUDY: This study was conducted to evaluate the cerebroprotective effect of C. oppositifolia methanolic root (MeCO) extract in Wistar rats. MATERIALS AND METHODS: The MeCO was characterized for total phenolic content and later subjected for detailed liquid chromatography-mass spectrometry analysis...
May 16, 2018: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#3
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29777361/tremor-induced-by-calcineurin-inhibitor-immunosuppression-a-single-centre-observational-study-in-kidney-transplanted-patients
#4
R Erro, Ruggero Bacchin, F Magrinelli, P Tomei, C Geroin, G Squintani, A Lupo, G Zaza, M Tinazzi
INTRODUCTION: Tremor is the most frequent and disabling neurological side effect under Calcineurin inhibitor-induced immunosuppression, but no studies have defined its phenomenology, severity, distribution, the impact on quality of life, as well as of other neurological symptoms associated. METHODS: 126 consecutive kidney-transplanted patients, under treatment with Cyclosporin A, Tacrolimus and non-Calcineurin inhibitors, within therapeutic range, were enrolled...
May 18, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29777341/improvement-of-neurological-and-ocular-symptoms-of-beh%C3%A3-et-s-disease-after-the-introduction-of-infliximab
#5
REVIEW
Marko Barešić, Mirna Reihl, Mario Habek, Nenad Vukojević, Branimir Anić
Behçet's disease is a chronic inflammatory condition of unknown origin characterized by multiple organ involvement. The most common symptoms of Behçet's disease are recurrent oral and/or genital ulcerations in combination with symptoms affecting eyes, skin, central and peripheral nervous system, blood vessels and gastrointestinal tract. We present a 43-year-old female patient with the history of recurrent episodes of genital and oral ulcerations, elevated acute phase reactants and skin lesions. The diagnosis of Behçet's disease has been delayed (for more than 10 years) and reached only after she developed neurological and ocular symptoms...
May 17, 2018: Rheumatology International
https://www.readbyqxmd.com/read/29774893/prevalence-and-antimicrobial-sensitivity-pattern-of-urinary-tract-infection-among-children-with-cerebral-palsy-moshi-tanzania
#6
Amon Ryakitimbo, Rune Philemon, Festo Mazuguni, Levina Msuya
Background: Urinary tract infection (UTI) in children with cerebral palsy (CP) is a challenging yet common clinical condition. Children with CP bare the greatest risk of contracting UTI because of their difficulties in neuromotor control which lead to delay of bladder control, causing incomplete bladder emptying and urine retention. Method: This was an analytical cross-sectional study that was conducted from September 2016 to March 2017 at Comprehensive Community Based Rehabilitation in Tanzania - Moshi and Kilimanjaro Christian Medical Centre Neurological Pediatrics Outpatient Clinic...
2018: Pediatric Health, Medicine and Therapeutics
https://www.readbyqxmd.com/read/29774619/different-types-of-multiple-synapse-boutons-in-the-cerebellar-cortex-between-physically-enriched-and-ataxic-mutant-mice
#7
Hyun-Wook Kim, Seunghak Oh, Seung Hwan Lee, Sanghoon Lee, Ji-Eun Na, Kea Joo Lee, Im Joo Rhyu
Experience-dependent synapse remodeling is associated with information storage in the nervous system. Neuronal synapses show alteration in various neurological and cognitive disorders in their structure and function. At the ultrastructural level, parallel fiber boutons contacting multiple spines of Purkinje cells in the cerebellar cortex are commonly observed in physiologically enriched animals as well as pathological ataxic mutants. However, the dendritic origin of those spines on parallel fiber multiple-synapse boutons (MSBs) has been poorly understood...
May 18, 2018: Microscopy Research and Technique
https://www.readbyqxmd.com/read/29774198/a-rare-cause-of-thoracic-spinal-cord-compression-by-multiple-large-tarlov-cysts
#8
Ahmed-Salem Kleib, Sidi-Mohamed Salihy, Hussein Hamdi, Romain Carron, Outouma Soumaré
Spinal extradural arachnoid cyst (SEAC) is a rare cause of spinal cord compression. Bifocal location of thoracic and sacral SEACs is rarely reported in the literature. We report a case of thoracic spinal cord compression by SEAC associated with asymptomatic multiple sacral Tarlov cysts (TC). The surgical management and postoperative outcome of the patient are discussed. A 34-year-old woman was referred to the hospital for acute thoracic pain with a history of chronic long-standing back pain. She complained of walking difficulties...
April 2018: Korean Journal of Neurotrauma
https://www.readbyqxmd.com/read/29774194/improper-use-of-thrombolytic-agents-in-acute-hemiparesis-following-misdiagnosis-of-acute-ischemic-stroke
#9
Min Chan Kim, Seok Won Kim
Objective: Acute hemiparesis is often an early presentation of acute ischemic stroke, though it can occur in various disorders. This study aimed to investigate the improper use of thrombolytic agents for patients with acute hemiparesis, following the misdiagnosis of acute ischemic stroke. Methods: We analyzed the clinical and radiological data of nine patients initially misdiagnosed with cerebral stroke in the emergency room from May 2013 to January 2017. All the patients were treated with tissue plasminogen activator (TPA) owing to the presence of acute hemiparesis...
April 2018: Korean Journal of Neurotrauma
https://www.readbyqxmd.com/read/29773072/formal-procedure-to-facilitate-the-decision-to-withhold-or-withdraw-life-sustaining-interventions-in-a-neonatal-intensive-care-unit-a-seven-year-retrospective-study
#10
G Sorin, R Vialet, B Tosello
BACKGROUND: Neonatal deaths are often associated with the complex decision to limit or withdraw life-sustaining interventions (LSIs) rather than therapeutic impasses. Despite the existence of a law, significant disparities in clinical procedures remain. This study aimed to assess deaths occurring in a Neonatal Intensive Care Unit (NICU) and measure the impact of a traceable Limitation or Withdrawal of Active Treatment (LWAT) file on the treatment of these newborns. METHODS: In this monocentric retrospective study, we reviewed all consecutive neonatal deaths occurring during two three-year periods among patients in the NICU at the North Hospital of Marseille: cohort 1 (from 2009 to 2011 without the LWAT file) and cohort 2 (from 2013 to 2015 after introduction of the LWAT file)...
May 17, 2018: BMC Palliative Care
https://www.readbyqxmd.com/read/29772859/-analysis-of-clinical-efficacy-of-unilateral-open-door-cervical-laminoplasty-combined-with-foraminotomy-for-cervical-ossification-of-posterior-longitudinal-ligament
#11
Feng Yang, Ming-Sheng Tan, Xiang-Sheng Tang, Liang-Hai Jiang, Ping Yi, Qing-Ying Hao
OBJECTIVE: To explore the clinical efficacy of unilateral open-door laminoplasty combined with foraminotomy for cervical ossification of posterior longitudinal ligament(OPLL). METHODS: The clinical data of 45 patients with OPLL underwent surgical treatment between September 2011 and September 2015 were retrospectively analyzed. There were 26 males and 19 females with a mean age of 53.6 years old(ranged from 28 to 71 years). Among them, 24 cases received the surgery of unilateral open-door cervical laminoplasty combined with foraminotomy(combined group), and 21 cases received a single unilateral open-door cervical laminoplasty(single group)...
April 25, 2018: Zhongguo Gu Shang, China Journal of Orthopaedics and Traumatology
https://www.readbyqxmd.com/read/29772467/yawning-and-cortisol-levels-in-multiple-sclerosis-potential-new-diagnostic-tool
#12
Simon B N Thompson, Alister Coleman, Nicola Williams
Yawning is a significant behavioural response and, together with cortisol, is potentially a new diagnostic marker of neurological diseases. Evidence of an association between yawning and cortisol was found which supports the Thompson Cortisol Hypothesis and thermoregulation hypotheses, indication that brain cooling occurs when yawning. 117 volunteers aged 18-69 years were randomly allocated to experimentally controlled conditions to provoke yawning. Thirty-three had been diagnosed with multiple sclerosis. Saliva cortisol samples were collected before and after yawning or after stimuli presentation in the absence of yawning...
May 2, 2018: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29772219/differential-roles-of-polar-orbital-prefrontal-cortex-and-parietal-lobes-in-logical-reasoning-with-neutral-and-negative-emotional-content
#13
Iveta Eimontaite, Vinod Goel, Vanessa Raymont, Frank Krueger, Igor Schindler, Jordan Grafman
To answer the question of how brain pathology affects reasoning about negative emotional content, we administered a disjunctive logical reasoning task involving arguments with neutral content (e.g. Either there are tigers or women in NYC, but not both; There are no tigers in NYC; There are women in NYC) and emotionally laden content (e.g. Either there are pedophiles or politicians in Texas, but not both; There are politicians in Texas; There are no pedophiles in Texas) to 92 neurological patients with focal lesions to various parts of the brain...
May 14, 2018: Neuropsychologia
https://www.readbyqxmd.com/read/29771692/the-expanding-spectrum-of-paroxysmal-movement-disorders-update-from-clinical-features-to-therapeutics
#14
Eavan M McGovern, Emmanuel Roze, Timothy J Counihan
PURPOSE OF REVIEW: This review will discuss the expanding clinical spectrum of paroxysmal movement disorders and therapeutic options in light of emerging genotypic heterogeneity in these conditions. RECENT FINDINGS: Paroxysmal movement disorders comprise a heterogeneous group of rare neurological conditions characterized by intermittent episodes of abnormal movement associated with various triggers. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options...
May 15, 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29771271/discontinuing-treatment-against-medical-advice-the-role-of-perceived-autonomy-support-from-providers-in-relapsing-remitting-multiple-sclerosis
#15
Morgan Glusman, Amanda Bruce, Joanie Thelen, Julia Smith, Sharon Lynch, Delwyn Catley, Kimberley K Bennett, Jared Bruce
Background: Long-term medication adherence is problematic among patients with chronic medical conditions. To our knowledge, this was the first study to examine factors associated with nonadherence among patients with relapsing-remitting multiple sclerosis who discontinue disease-modifying treatments against medical advice. Purpose: To examine differences in perceived provider autonomy support between disease-modifying treatment-adherent relapsing-remitting multiple sclerosis patients and relapsing-remitting multiple sclerosis patients who discontinued disease-modifying treatments against medical advice...
May 16, 2018: Annals of Behavioral Medicine: a Publication of the Society of Behavioral Medicine
https://www.readbyqxmd.com/read/29771155/cardiac-events-within-one-year-after-a-subarachnoid-haemorrhage-the-predictive-value-of-troponin-elevation-after-aneurysm-occlusion
#16
Annemarie Akkermans, Linda M Peelen, Judith A van Waes, Gabriël J Rinkel, Wilton A van Klei
Background Patients who survive after an aneurysmal subarachnoid haemorrhage (ASAH) have an increased incidence of cardiovascular events compared with the general population. We assessed whether troponin elevation after aneurysm occlusion, as marker of myocardial injury, can predict long-term cardiac events. Methods We analysed a prospectively collected cohort of 159 patients with ASAH and early aneurysm occlusion, in whom routine post-intervention troponin I (TnI) measurements were performed. With competing risk regression modelling we estimated the association between TnI elevation after aneurysm occlusion and major adverse cardiac events within one year...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29770345/biotin-thiamine-responsive-basal-ganglia-disease-case-report-and-follow-up-of-a-patient-with-poor-compliance
#17
Muneera A Alabdulqader, Sumayah Al Hajjaj
Background: Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare treatable autosomal recessive neurometabolic disorder characterized by progressive encephalopathy that eventually leads to severe disability and death if not treated with biotin and thiamine supplements. Objectives: We aimed to determine the optimal management of BTBGD presenting in acute encephalopathic episodes. Method: Case report. Results: An 8-year-old girl born to consanguineous parents was diagnosed with BTBGD at the age of 3 years after presenting with acute encephalopathy and ataxia...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29770123/what-if-low-back-pain-is-the-most-prevalent-parkinsonism-in-the-world
#18
Jesse V Jacobs, Sharon M Henry, Fay B Horak
Low back pain (LBP) has a point prevalence of nearly 10% and ranks highest in global disease burden for years lived with disability; Parkinson's disease (PD) ranks in the top 100 most disabling health conditions for years lost and years lived with disability (1). Recent evidence suggests that people with chronic, recurrent LBP exhibit many postural impairments reminiscent of a neurological postural disorder such as PD. We compare and contrast postural impairments associated with LBP and PD in order to inform treatment strategies for both conditions...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29769699/a-stocked-toolbox-for-understanding-the-role-of-astrocytes-in-disease
#19
REVIEW
Akshata Almad, Nicholas J Maragakis
Our understanding of astrocytes and their role in neurological diseases has increased considerably over the past two decades as the diverse roles of these cells have become recognized. Our evolving understanding of these cells suggests that they are more than support cells for neurons and that they play important roles in CNS homeostasis under normal conditions, in neuroprotection and in disease exacerbation. These multiple functions make them excellent candidates for targeted therapies to treat neurological disorders...
May 16, 2018: Nature Reviews. Neurology
https://www.readbyqxmd.com/read/29769511/an-elderly-lady-with-neurobrucellosis-and-multiple-co-morbid-conditions
#20
M N Islam
Neurobrucellosis is a rare (1.7-7.0% of prevalence) neurological complication of brucellosis which has neither a typical clinical picture nor specific cerebrospinal fluid (CSF) findings and mimics other neurological disorders leading to clinical diagnostic dilemmas. This study describes one elderly patient of neurobrucellosis with fever, irrelevant behavior, sweating, fatigue, drowsiness, neck stiffness inability to speak and reduced activity for about 10 days hailing from Beanibazar, Sylhet, Bangladesh admitted in Mount Adora Hospital, Sylhet, Bangladesh on 16th October 2016...
April 2018: Mymensingh Medical Journal: MMJ
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