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case study in neurology

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https://www.readbyqxmd.com/read/28239347/hearing-dysfunction-in-xpa-deficient-mice
#1
Hitomi Shinomiya, Daisuke Yamashita, Takeshi Fujita, Eiji Nakano, Go Inokuchi, Shingo Hasegawa, Naoki Otsuki, Chikako Nishigori, Ken-Ichi Nibu
Xeroderma pigmentosum (XP) is a rare recessive heredity disease caused by DNA repair impairment characterized by photosensitivity and neurologic symptoms in half of the cases. There are eight subtypes of XP: XP-A-XP-G and XP variant. Among eight subtypes, XP complementation group A (XP-A) display the lowest DNA repair ability and the severest cutaneous and neurologic symptoms. While its pathogenesis of skin symptoms have been well-studied, that of neurological symptoms, including sensorineural hearing loss (SNHL) remains unknown...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28238395/profound-hypotension-and-bradycardia-in-the-setting-of-synthetic-cannabinoid-intoxication-a-case-series
#2
David O Andonian, Shauna R Seaman, Elaine B Josephson
Cannabinoids are the most commonly used illegal substances in the world [1]. Synthetic Cannabinoids (SCB) are also known as "Spice", "K2", "Spike", "herbal incense", "Cloud 9", "Mojo" and many others are becoming a large public health concern due to their increasing use, unpredictable toxicity, and abuse potential [2]. The most common reported toxicities with SCB use based on studies using Texas Poison control record are tachycardia, agitation and irritability, drowsiness, hallucinations, delusions, hypertension, nausea, confusion, dizziness, vertigo, chest pain, acute kidney injury, seizures, heart attacks and both ischemic and hemorrhagic strokes [3]...
January 12, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28237878/a-tissue-dose-based-comparative-exposure-assessment-of-manganese-using-physiologically-based-pharmacokinetic-modeling-the-importance-of-homeostatic-control-for-an-essential-metal
#3
P Robinan Gentry, Cynthia Van Landingham, William G Fuller, Sandra I Sulsky, Tracy B Greene, Harvey J Clewell, Melvin E Andersen, Harry A Roels, Michael D Taylor, Athena M Keene
A physiologically-based pharmacokinetic (PBPK) model (Schroeter et al., 2011) was applied to simulate target tissue Mn concentrations following occupational and environmental exposures. These estimates of target tissue Mn concentrations were compared to determine margins of safety (MOS) and to evaluate the biological relevance of applying safety factors to derive acceptable Mn air concentrations. Mn blood concentrations measured in occupational studies permitted verification of the human PBPK models, increasing confidence in the resulting estimates...
February 22, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28237853/familial-cortical-myoclonic-tremor-and-epilepsy-description-of-a-new-south-african-pedigree-with-30-year-follow-up
#4
Riaan van Coller, Anne-Fleur van Rootselaar, Clara Schutte, C H van der Meyden
AIM: The aims of this study were to report the index case of a South African family with cortical myoclonic tremor and epilepsy, to describe the pedigree with the clinical findings and results of additional investigations, and to report the unique follow-up evaluation of affected and unaffected family members after 30 years. METHODS: The index case led to evaluation of the clinical files of patients from 1978/1979 and clinical assessment and investigation of patients from this cohort as well as newly identified family members...
February 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28237144/retrospective-analysis-of-translaminar-demographic-and-physiologic-parameters-in-relation-to-papilledema-severity
#5
David Fleischman, Jennifer T Perry, R Rand Allingham, Sandra S Stinnett, Gita M Fleischman, Syndee J Givre, David A Chesnutt
OBJECTIVE: Some case reports suggest that the translaminar pressure difference is important in cases of papilledema. The purpose of this study was to determine ocular, physiologic, and demographic factors associated with papilledema severity. DESIGN: Retrospective, blinded study. PARTICIPANTS: Patients who had undergone a diagnostic lumbar puncture and had a diagnosis of papilledema in conjunction with idiopathic intracranial hypertension between 2004 and 2012 were included in the study...
February 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/28236863/postoperative-surveillance-in-neurosurgical-patients-usefulness-of-neurological-assessment-scores-and-bispectral-index
#6
Silvia Herrero, Enrique Carrero, Ricard Valero, Jose Rios, Neus Fábregas
BACKGROUND AND OBJECTIVES: We examined the additive effect of the Ramsay scale, Canadian Neurological Scale (CNS), Nursing Delirium Screening Scale (Nu-DESC), and Bispectral Index (BIS) to see whether along with the assessment of pupils and Glasgow Coma Scale (GCS) it improved early detection of postoperative neurological complications. METHODS: We designed a prospective observational study of two elective neurosurgery groups of patients: craniotomies (CG) and non-craniotomies (NCG)...
March 2017: Brazilian Journal of Anesthesiology
https://www.readbyqxmd.com/read/28236798/adherence-and-safety-study-in-patients-on-treatment-with-capecitabine
#7
Francisca Fernández-Ribeiro, Rosario Olivera-Fernández, Carlos Crespo-Diz
BACKGROUND: The introduction of oral antineoplastic agents in therapeutics has caused a change in the treatment strategy against cancer. The objective of this study was to analyze the adherence in patients to treatment with capecitabine, their adverse events, and the overall health status of patients, as well as the relationship of these factors with adherence. METHOD: An observational, prospective study at 7 months, in a cohort of patients on capecitabine treatment, including treatment initiations and continuations, regardless of diagnosis or indication...
March 1, 2017: Farmacia Hospitalaria
https://www.readbyqxmd.com/read/28236250/group-b-streptococcal-disease-in-infants-in-the-first-year-of-life-a-nationwide-surveillance-study-in-japan-2011-2015
#8
Kousaku Matsubara, Kiyoshi Hoshina, Masatoshi Kondo, Isao Miyairi, Yoshiya Yukitake, Yusuke Ito, Kisei Minami, Ryuichi Genkawa
PURPOSE: This study aimed to describe the epidemiology of childhood group B streptococcus (GBS) disease including late late-onset disease (LLOD) and to clinically characterize recurrent cases and twin-sibling cases in Japan. METHODS: We collected information on infants (<1 year of age) with invasive GBS disease and institutional information about births and transfers through a nationwide questionnaire between 2011 and 2015. RESULTS: We identified 133 infants with early-onset disease (EOD), 274 late-onset disease (LOD), and 38 LLOD from 149 institutes...
February 25, 2017: Infection
https://www.readbyqxmd.com/read/28235967/social-disadvantages-associated-with-myasthenia-gravis-and-its-treatment-a-multicentre-cross-sectional-study
#9
Yuriko Nagane, Hiroyuki Murai, Tomihiro Imai, Daisuke Yamamoto, Emiko Tsuda, Naoya Minami, Yasushi Suzuki, Tetsuya Kanai, Akiyuki Uzawa, Naoki Kawaguchi, Masayuki Masuda, Shingo Konno, Hidekazu Suzuki, Masashi Aoki, Kimiaki Utsugisawa
OBJECTIVES: To clarify the social disadvantages associated with myasthenia gravis (MG) and examine associations with its disease and treatment. DESIGN: Cross-sectional study. SETTING AND PARTICIPANTS: We evaluated 917 consecutive cases of established MG seen at 13 neurological centres in Japan over a short duration. OUTCOME MEASURES: All patients completed a questionnaire on social disadvantages resulting from MG and its treatment and a 15-item MG-specific quality of life scale at study entry...
February 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28235604/mir-466b-1-3p-regulates-p-glycoprotein-expression-in-rat-cerebral-microvascular-endothelial-cells
#10
Xiaobo Yang, Weimin Ren, Yiye Shao, Yinghui Chen
Epilepsy is one of the most common neurological disorders, and approximately one-third of epilepsy cases are resistant to treatment with anti-epileptic drug (AED). P-glycoprotein (P-gp) is a multi-drug transporter that is thought to play a pivotal role in multiple drug resistance (MDR) in epilepsy. The regulatory mechanism of P-gp remainslargely unknown; however, recent studies have demonstrated that microRNAs (miRNAs) may regulate the chemo-resistance mediated by P-gp. This study investigated the effect of specific miRNAs that regulate P-gp expression in rat cerebral microvascular endothelial cells (RCMECs)...
February 21, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28235506/effective-volumes-of-1-5-mepivacaine-with-different-sodium-concentration-for-ultrasound-guided-popliteal-block
#11
Mercedes López, Miguel Calvo, Azahara Sancho, Nicolas Brogly, Emilia Guasch, Fernando Gilsanz
STUDY OBJECTIVE: To determine if a solution of 1.5% mepivacaine diluted with 5% dextrose, which decreases the sodium concentration by 30%, results in reduced volume requirements for a complete sensory block, in the case of an ultrasound guided popliteal nerve block. DESIGN: A randomized controlled study. SETTING: Operating room. PATIENTS: We included seventy ASA 1-3 patients, undergoing unilateral "hallux valgus" repair under ultrasound guided popliteal nerve block...
February 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28231269/a-mouse-model-of-paralytic-myelitis-caused-by-enterovirus-d68
#12
Alison M Hixon, Guixia Yu, J Smith Leser, Shigeo Yagi, Penny Clarke, Charles Y Chiu, Kenneth L Tyler
In 2014, the United States experienced an epidemic of acute flaccid myelitis (AFM) cases in children coincident with a nationwide outbreak of enterovirus D68 (EV-D68) respiratory disease. Up to half of the 2014 AFM patients had EV-D68 RNA detected by RT-PCR in their respiratory secretions, although EV-D68 was only detected in cerebrospinal fluid (CSF) from one 2014 AFM patient. Given previously described molecular and epidemiologic associations between EV-D68 and AFM, we sought to develop an animal model by screening seven EV-D68 strains for the ability to induce neurological disease in neonatal mice...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28230629/point-of-injury-tourniquet-application-during-operation-protective-edge-what-de-we-learn
#13
Amir Shlaifer, Avraham Yitzhak, Erez N Baruch, Avi Shina, Alexandra Satanovsky, Amiram Shovali, Ofer Almog, Elon Glassberg
BACKGROUND: Hemorrhage is a leading cause of preventable death on the battlefield. Timely tourniquet application to massively bleeding extremity wounds is critical for casualty survival albeit with reported adverse effects to extremity integrity. The aim of this study was to describe the immediate and short term outcomes of point of injury (POI) tourniquet applications during 'Operation Protective Edge' (OPE). METHODS: A case series study regarding tourniquet application at the POI during OPE was collected...
February 23, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28229125/the-clinical-neuroanatomical-and-neuropathologic-phenotype-of-tbk1-associated-frontotemporal-dementia-a-longitudinal-case-report
#14
Carolin A M Koriath, Martina Bocchetta, Emilie Brotherhood, Ione O C Woollacott, Penny Norsworthy, Javier Simón-Sánchez, Cornelis Blauwendraat, Katrina M Dick, Elizabeth Gordon, Sophie R Harding, Nick C Fox, Sebastian Crutch, Jason D Warren, Tamas Revesz, Tammaryn Lashley, Simon Mead, Jonathan D Rohrer
INTRODUCTION: Mutations in the TANK-binding kinase 1 (TBK1) gene have recently been shown to cause frontotemporal dementia (FTD). However, the phenotype of TBK1-associated FTD is currently unclear. METHODS: We performed a single case longitudinal study of a patient who was subsequently found to have a novel A705fs mutation in the TBK1 gene. He was assessed annually over a 7-year period with a series of clinical, cognitive, and magnetic resonance imaging assessments...
2017: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/28228838/a-rare-case-of-bilateral-optic-neuritis-and-guillain-barr%C3%A3-syndrome-post-mycoplasma-pneumoniae-infection
#15
Aravindhan Baheerathan, Amy Ross Russell, Fion Bremner, Simon F Farmer
Neurological complications are the most commonly encountered extra-pulmonary manifestation of infection with Mycoplasma pneumoniae (M. pneumoniae). Here the authors report the case of a 39-year-old woman who was admitted with acute-onset bilateral visual loss coinciding with ascending numbness. Clinical examination, neurological imaging, and nerve conduction studies revealed a syndrome of bilateral optic neuritis and Guillain-Barré syndrome (GBS). Serological testing confirmed recent exposure to M. pneumoniae...
February 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/28228720/motor-learning-abilities-are-similar-in-hemiplegic-cerebral-palsy-compared-to-controls-as-assessed-by-adaptation-to-unilateral-leg-weighting-during-gait-part-i
#16
Diane L Damiano, Christopher J Stanley, Thomas C Bulea, Hyung Soon Park
Introduction: Individuals with cerebral palsy (CP) demonstrate high response variability to motor training insufficiently accounted for by age or severity. We propose here that differences in the inherent ability to learn new motor tasks may explain some of this variability. Damage to motor pathways involving the cerebellum, which may be a direct or indirect effect of the brain injury for many with CP, has been shown to adversely affect the ability to learn new motor tasks and may be a potential explanation...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28227557/sudden-changes-in-walking-surface-compliance-evoke-contralateral-emg-in-a-hemiparetic-walker-a-case-study-of-inter-leg-coordination-after-neurological-injury
#17
Jeffrey Skidmore, Panagiotis Artemiadis, Jeffrey Skidmore, Panagiotis Artemiadis, Jeffrey Skidmore, Panagiotis Artemiadis
Gait impairment due to neurological disorders is a significant problem around the world. Despite the growing interest in using robotic devices for gait rehabilitation, their widespread use remains limited as there is no clear evidence that robot-assisted gait therapy is superior to traditional treadmill-based therapy. This work is a case study that focuses on investigating the existence of mechanisms of inter-leg coordination after neurological injury, and based on that, proposing novel methods for gait rehabilitation...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28227183/a-modular-closed-loop-platform-for-intracranial-stimulation-in-people-with-neurological-disorders
#18
Anish A Sarma, Britni Crocker, Sydney S Cash, Wilson Truccolo, Anish A Sarma, Britni Crocker, Sydney S Cash, Wilson Truccolo, Sydney S Cash, Wilson Truccolo, Anish A Sarma, Britni Crocker
Neuromodulation systems based on electrical stimulation can be used to investigate, probe, and potentially treat a range of neurological disorders. The effects of ongoing neural state and dynamics on stimulation response, and of stimulation parameters on neural state, have broad implications for the development of closed-loop neuro-modulation approaches. We describe the development of a modular, low-latency platform for pre-clinical, closed-loop neuromodulation studies with human participants. We illustrate the uses of the platform in a stimulation case study with a person with epilepsy undergoing neuro-monitoring prior to resective surgery...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226274/mortality-morbidity-and-refractoriness-prediction-in-status-epilepticus-comparison-of-stess-and-emse-scores
#19
Giada Giovannini, Giulia Monti, Manuela Tondelli, Andrea Marudi, Franco Valzania, Markus Leitinger, Eugen Trinka, Stefano Meletti
PURPOSE: Status epilepticus (SE) is a neurological emergency, characterized by high short-term morbidity and mortality. We evaluated and compared two scores that have been developed to evaluate status epilepticus prognosis: STESS (Status Epilepticus Severity Score) and EMSE (Epidemiology based Mortality score in Status Epilepticus). METHODS: A prospective observational study was performed on consecutive patients with SE admitted between September 2013 and August 2015...
February 7, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28226077/superficial-siderosis-of-the-central-nervous-system-is-a-rare-and-possibly-underdiagnosed-disorder
#20
Yara Dadalti Fragoso, Tarso Adoni, Joseph Bruno Bidin Brooks, Sidney Gomes, Marcus Vinicius Magno Goncalves, Cassio Lemos Jovem, Andre Palma da Cunha Matta, Joao Filipe Oliveira, Fabio Siquinelli, Carlos Bernardo Tauil, Guilherme Navarro Troiani, Paulo Roberto Wille
Methods: Series of cases collected from Brazilian centers. Results: We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion: SS-CNS is a rare disease that may remain undiagnosed for long periods...
February 2017: Arquivos de Neuro-psiquiatria
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