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https://www.readbyqxmd.com/read/28103821/genetic-polymorphisms-of-scn9a-are-associated-with-oxaliplatin-induced-neuropathy
#1
María Sereno, Gerardo Gutiérrez-Gutiérrez, Juan Moreno Rubio, María Apellániz-Ruiz, Lara Sánchez-Barroso, Enrique Casado, Sandra Falagan, Miriam López-Gómez, María Merino, César Gómez-Raposo, Nuria Rodriguez-Salas, Francisco Zambrana Tébar, Cristina Rodríguez-Antona
BACKGROUND: Oxaliplatin is a chemotherapy agent active against digestive tumors. Peripheral neuropathy is one of the most important dose-limiting toxicity of this drug. It occurs in around 60-80% of the patients, and 15% of them develop severe neuropathy. The pathophysiology of oxaliplatin neurotoxicity remains unclear. SCN9A is a gene codifying for a subtype sodium channel (type IX, subunit α) and mutations in this gene are involved in neuropathic perception. In this study we investigated whether SCN9A genetic variants were associated with risk of neurotoxicity in patients diagnosed of cancer on treatment with oxaliplatin...
January 19, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28088604/alba-screening-instrument-asi-a-brief-screening-tool-for-lewy-body-dementia
#2
M M Garcia Basalo, M C Fernandez, M Ojea Quintana, J I Rojas, M J Garcia Basalo, E Bogliotti, N Campora, M Fernandez, W Berrios, E Cristiano, A Golimstok
BACKGROUND: Early detection of neurodegenerative diseases is essential for treatment and proper care of these patients. Screening tools available today are effective for several types of dementia. However, there is no one specific for Lewy Body Dementia (LBD). OBJECTIVES: The aim of this paper is to present a tool for early detection of LBD, accessible even for non-medical staff. METHODS: We stratified subjects (MMSE>20) into four groups: health controls (HC), Mild Cognitive Impairment (MCI), LBD and other dementias (Alzheimer and vascular)...
January 5, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28025665/mds-clinical-diagnostic-criteria-for-parkinson-s-disease-in-china
#3
Jun Li, Miao Jin, Li Wang, Bin Qin, Kang Wang
The Movement Disorder Society Clinical Diagnostic Criteria for Parkinson's disease (MDS-PD Criteria) was introduced by the Movement Disorder Society in 2015 for research purposes. However, its use for clinical diagnosis of Parkinson disease still needs further revision. This study compares the UK-Criteria versus MDS-PD Criteria in the clinical diagnosis of Parkinson disease referred to the China-Japan Friendship Hospital of Beijing, China. To compare the MDS-PD Criteria with the UK-Criteria and discuss the feasibility of the clinical application of MDS-PD Criteria as a general guide to clinical diagnosis of PD in Chinese PD patients...
December 26, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/28005617/lateral-extracavitary-approach-versus-posterior-extensive-circumferential-decompression-in-the-treatment-of-complicated-thoracic-and-lumbar-tuberculous-spondylitis
#4
Khaled Omran, Ahmed S Abdel-Fattah, Ahmed M A Othman, Ahmed O Youssef, Amr Solimen, Mohamed A ElRefai, Ahmed N Saleh, Mohammed Ali
OBJECTIVES AND STUDY DESIGN: The aim of this study was to retrospectively evaluate 45 patients operated upon either by posterior extensive circumferential decompression (PECD) or by the lateral extracavitary (LEC) technique and compare the clinical, radiologic, laboratory, and functional outcomes. SUMMARY OF BACKGROUND: The debate continues on the best decompression-fusion technique for treating complicated spinal tuberculosis. In recent times, the advantages of combined surgery have been successfully achieved using the 1-stage salvage technique, with enough accessibility to all 3 spinal columns...
December 21, 2016: Clinical Spine Surgery
https://www.readbyqxmd.com/read/27982769/a-novel-assistive-method-for-rigidity-evaluation-during-deep-brain-stimulation-surgery-using-acceleration-sensors
#5
Ashesh Shah, Jérôme Coste, Jean-Jacques Lemaire, Erik Schkommodau, Ethan Taub, Raphael Guzman, Philippe Derost, Simone Hemm
OBJECTIVE Despite the widespread use of deep brain stimulation (DBS) for movement disorders such as Parkinson's disease (PD), the exact anatomical target responsible for the therapeutic effect is still a subject of research. Intraoperative stimulation tests by experts consist of performing passive movements of the patient's arm or wrist while the amplitude of the stimulation current is increased. At each position, the amplitude that best alleviates rigidity is identified. Intrarater and interrater variations due to the subjective and semiquantitative nature of such evaluations have been reported...
December 16, 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27965552/dietary-intake-of-nutrients-and-lifestyle-affect-the-risk-of-mild-cognitive-impairment-in-the-chinese-elderly-population-a-cross-sectional-study
#6
Yanhui Lu, Yu An, Jin Guo, Xiaona Zhang, Hui Wang, Hongguo Rong, Rong Xiao
Mild cognitive impairment (MCI) is a pre-clinical stage of Alzheimer's disease afflicting a large number of the elderly throughout the world. However, modifiable risk factors for the onset and progression of MCI remain unclear. A cross-sectional study was performed to explore whether and how daily dietary nutrients intake and lifestyle impacted the risk of MCI in the Chinese elderly. We examined 2,892 elderly subjects, including 768 MCI patients and 2,124 subjects with normal cognition in three different Provinces of China...
2016: Frontiers in Behavioral Neuroscience
https://www.readbyqxmd.com/read/27930565/a-case-report-with-the-peculiar-concomitance-of-2-different-genetic-syndromes
#7
Alberto Lerario, Irene Colombo, Donatella Milani, Lorenzo Peverelli, Luisa Villa, Roberto Del Bo, Monica Sciacco, Giacomo Pietro Comi, Susanna Esposito, Maurizio Moggio
RATIONALE: Down syndrome (DS) is the most common chromosome disorder in live born infants, affecting several body systems, but usually sparing skeletal muscles. We present the case of a child with coexistence of DS and dystrophinopathy. Only 1 similar case has been reported so far. PATIENT CONCERNS: An 8-year-old boy with DS had a history of incidental finding of increased serum creatine kinase levels up to 1775 U/L (normal values 38-174 U/L). He presented no delay in motor development; at the neurological examination, no muscle weakness or fatigability was detected in 2 different evaluations performed over a 6-month period...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27930349/patent-foramen-ovale-with-atrial-septal-aneurysm-is-strongly-associated-with-migraine-with-aura-a-large-observational-study
#8
Roel J R Snijder, Justin G L M Luermans, Albert H de Heij, Vincent Thijs, Wouter J Schonewille, Alexander Van De Bruaene, Martin J Swaans, Werner I H L Budts, Martijn C Post
BACKGROUND: A patent foramen ovale (PFO) with atrial septal aneurysm (ASA) has been identified as a risk factor for cryptogenic stroke. Patients with migraine with aura (MA) appear to be at risk for silent brain infarction, which might be related to the presence of a PFO. However, the association between MA and PFO with ASA has never been reported. We examined this association in a large observational study. METHODS AND RESULTS: Patients (>18 years) who underwent an agitated saline transesophageal echocardiography (cTEE) at our outpatient clinics within a timeframe of 4 years were eligible to be included...
December 1, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27922660/combined-vision-and-wearable-sensors-based-system-for-movement-analysis-in-rehabilitation
#9
Sofija Spasojević, Tihomir V Ilić, Slađan Milanović, Veljko Potkonjak, Aleksandar Rodić, José Santos-Victor
BACKGROUND: Traditional rehabilitation sessions are often a slow, tedious, disempowering and non-motivational process, supported by clinical assessment tools, i.e. evaluation scales that are prone to subjective rating and imprecise interpretation of patient's performance. Poor patient motivation and insufficient accuracy are thus critical factors that can be improved by new sensing / processing technologies. OBJECTIVES: We aim to develop a portable and affordable system, suitable for home rehabilitation, which combines vision-based and wearable sensors...
December 6, 2016: Methods of Information in Medicine
https://www.readbyqxmd.com/read/27922494/approach-to-the-patient-with-hyperckemia
#10
Shannon L Venance
PURPOSE OF REVIEW: Neurologists commonly receive consultation requests regarding the evaluation of patients with an elevated serum creatine kinase (CK), a condition known as hyperCKemia. This article outlines an approach to the history and examination of patients with hyperCKemia in order to narrow the localization and differential of an elevated CK and guide possible next steps. This article aims to help clinicians identify treatable or reversible etiologies as well as those that will change management...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27891018/legal-challenges-in-neurological-practice
#11
REVIEW
Sita Jayalakshmi, Sudhindra Vooturi
Clinical neuroscience has made tremendous advances over the last century. Neurology as a discipline is still considered challenging and at times risky due to the natural history and progressive course of few of the neurological diseases. Encouragingly, the patient and their caregivers are now increasingly willing to be actively involved in making decisions. The patients' relationship with the doctor is a reflection of the society. A society that is orienting itself toward "rating" and "feedback" has made this doctor-patient relationship, a consumer-service provider relationship...
October 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27829186/counseling-by-epileptologists-affects-contraceptive-choices-of-women-with-epilepsy
#12
Alyssa R Espinera, Jay Gavvala, Irena Bellinski, Jeffrey Kennedy, Micheal P Macken, Aditi Narechania, Jessica Templer, Stephen VanHaerents, Stephan U Schuele, Elizabeth E Gerard
INTRODUCTION: There are several important interactions between antiepileptic drugs (AEDs) and hormonal contraception that need to be carefully considered by women with epilepsy (WWE) and their practitioners. Many AEDs induce hepatic enzymes and decrease the efficacy of hormonal contraception. In addition, estrogen-containing hormonal contraception can increase the metabolism of lamotrigine, the most commonly prescribed AED in women of childbearing age. The intrauterine device (IUD) is a highly effective form of reversible contraception without AED drug interactions that is considered by many to be the contraceptive of choice for WWE...
December 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27820766/neurologic-evaluations-of-patients-exposed-to-the-world-trade-center-disaster
#13
Mark M Stecker, Huiying Yu, Renee Barlev, Michael Marmor, Marc Wilkenfeld
OBJECTIVE: The aim of this study was to describe the clinical phenotype of a limited group of responders and survivors of the World Trade Center (WTC) disaster who were referred for the evaluation of neuropathic symptoms. METHODS: Sixteen patients with WTC exposure were referred to a neurologist for evaluation. All had a neurologic examination. Most had electromyogram and nerve conduction testing/nerve conduction studies as well as appropriate imaging and blood tests...
November 2016: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/27719853/functional-and-simulated-visual-loss
#14
M Dattilo, V Biousse, B B Bruce, N J Newman
Nonorganic visual loss (NOVL) is the cause of a large number of referrals to neurologists and ophthalmologists and is a frequent area of overlap between neurologists, ophthalmologists, and psychiatrists. NOVL is the presence of visual impairment without an organic cause for disease despite a thorough and comprehensive investigation. A diagnosis of NOVL requires both the absence of any findings on examination and proof of the integrity and functioning of the visual system. Although sometimes a challenging diagnosis to make, there are a number of techniques and maneuvers which can be utilized fairly easily, either at the bedside or in the clinic, to help determine if a patient has NOVL...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/27670427/cluster-headache-in-greece-an-observational-clinical-and-demographic-study-of-302-patients
#15
Michail Vikelis, Alan M Rapoport
BACKGROUND: Cluster headache (CH) is considered the most excruciating primary headache syndrome; although much less prevalent than migraine, it is not rare as it affects more than 1/1000 people. While its clinical presentation is considered stereotypic, atypical features are often encountered. Internationally, cluster headache is often misdiagnosed, undertreated and mistreated. METHODS: We prospectively studied 302 CH patients, all examined by the same headache specialist...
December 2016: Journal of Headache and Pain
https://www.readbyqxmd.com/read/27659091/trauma-due-to-self-aggression-in-patient-with-waardenburg-syndrome-associated-with-congenital-anomalies
#16
Sara Nader Marta, Roberto Yoshio Kawakami, Claudia Almeida Prado Piccino Sgavioli, Ana Eliza Correa, Guaniara D'Árk de Oliveira El Kadre, Ricardo Sandri Carvalho
Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil...
August 1, 2016: Journal of Contemporary Dental Practice
https://www.readbyqxmd.com/read/27642737/-consciousness-disorders-from-neurological-view
#17
Rüdiger Lange, Frank Erbguth
"Disturbances of consciousness of unknown origin" require an interdisciplinary approach due to the broad variety of possibly underlying causes. Primary neurological pathologies account for about half of the cases, which emphasizes the key role of the neurologist in the primary assessment and planning of the diagnostic and therapeutic strategy. The most important goal is to quickly identify patients with extremely time-critical conditions like ischemic stroke, bacterial meningitis or space occupying intracranial hemorrhage...
September 2016: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/27624725/clinical-radiological-correlation-in-e200k-familial-creutzfeldt-jakob-disease
#18
Oren S Cohen, Joab Chapman, Amos D Korczyn, Oliver L Siaw, Naama Warman-Alaluf, Zeev Nitsan, Shmuel Appel, Esther Kahana, Hanna Rosenmann, Chen Hoffmann
The use of diffusion MRI improved the accuracy of diagnosis in Creutzfeldt-Jakob disease (CJD) and expanded our knowledge of the changes occurring in the brain during the disease. The aim of this study was to test whether in patients with E200K familial CJD (fCJD) the clinical severity correlates with the disease burden as reflected by the extent of cortical involvement in DWI MRI. Consecutive fCJD patients were examined by a neurologist who performed several tests including the CJD neurological scale (CJD-NS), MiniMental status examination (MMSE), Frontal Assessment Battery (FAB), NIH Stroke Scale (NIHSS), and the expanded disability status scale (EDSS)...
December 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27620894/longitudinal-changes-of-cerebral-glutathione-gsh-levels-associated-with-the-clinical-course-of-disease-progression-in-patients-with-secondary-progressive-multiple-sclerosis
#19
In-Young Choi, Phil Lee, Abbey J Hughes, Douglas R Denney, Sharon G Lynch
BACKGROUND: Increased oxidative stress leads to loss of glutathione (GSH). We have reported lower cerebral GSH in patients with secondary progressive multiple sclerosis (SPMS), indicating the involvement of oxidative stress in multiple sclerosis (MS) pathophysiology. OBJECTIVE: This study expanded upon our earlier work by examining longitudinal changes in cerebral GSH in patients with SPMS in relation to their clinical status. METHODS: A total of 13 patients with SPMS (Expanded Disability Status Scale (EDSS) = 4...
September 12, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/27614874/clinical-impact-of-123i-ioflupane-spect-datscan-in-a-movement-disorder-center
#20
Allison K Graebner, Daniel Tarsy, Ludy C Shih, Veronique Vanderhorst, Omesh Kulkarni, Scott Kaplan, David K Simon
BACKGROUND/AIMS: The clinical diagnosis of degenerative forms of parkinsonism is imperfect, with past studies reporting a high rate of misdiagnosis by neurologists and movement disorder specialists, particularly early in the disease course. 123I-ioflupane SPECT (DaTscan) is a diagnostic neuroimaging tool used to distinguish essential tremor from tremor due to degenerative parkinsonisms. The present study expands upon prior studies of the clinical impact of DaTscan imaging in movement disorder centers by assessing quantitative estimates of diagnostic certainty, the impact on subsequent clinical decisions, and the degree to which the asymmetry in the results corresponds to laterality by clinical history and examination...
September 10, 2016: Neuro-degenerative Diseases
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