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neurologic examination

Hiroki Maruyama, Kaori Miyata, Mariko Mikame, Atsumi Taguchi, Chu Guili, Masaru Shimura, Kei Murayama, Takeshi Inoue, Saori Yamamoto, Koichiro Sugimura, Koichi Tamita, Toshihiro Kawasaki, Jun Kajihara, Akifumi Onishi, Hitoshi Sugiyama, Teiko Sakai, Ichijiro Murata, Takamasa Oda, Shigeru Toyoda, Kenichiro Hanawa, Takeo Fujimura, Shigehisa Ura, Mimiko Matsumura, Hideki Takano, Satoshi Yamashita, Gaku Matsukura, Ryushi Tazawa, Tsuyoshi Shiga, Mio Ebato, Hiroshi Satoh, Satoshi Ishii
PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively...
March 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Raquel Guimarães-Costa, Yoland Schoindre, Arnaud Metlaine, Jean-Pascal Lefaucheur, Jean-Philippe Camdessanché, Thierry Maisonobe, Jean-Marc Léger
A 59-year old woman presented with progressive paresthesias of all of her limbs for 4 years, associated with neuropathic pain, tingling in the tongue and allodynia, consistent with small-fiber neuropathy (SFN). Several systemic symptoms and signs were found on clinical examination and laboratory work-up. Neurological investigations including neurophysiologic test and skin biopsy supported the diagnosis of SFN. Chronic exposure to N-hexane was then disclosed and suspected to be the cause of the disease. Following the discontinuation of chronic N-hexane exposure, the patient had a progressive improvement of all signs and symptoms, reinforcing the correlation between exposure to N-hexane and development of SFN...
March 15, 2018: Journal of the Peripheral Nervous System: JPNS
Ruobing Huang, Ana Namburete, Alison Noble
We present a general framework for automatic segmentation of fetal brain structures in ultrasound images inspired by recent advances in machine learning. The approach is based on a region descriptor that characterizes the shape and local intensity context of different neurological structures without explicit models. To validate our framework, we present experiments to segment two fetal brain structures of clinical importance that have quite different ultrasonic appearances-the corpus callosum (CC) and the choroid plexus (CP)...
January 2018: Journal of Medical Imaging
Doron Feinsilber, Roberto J Leoni, Duminda Siripala, Julianne Leuck, Katrina A Mears
The pharmacological and medical management of complex chemotherapy regimens are vast and complex, requiring an intimate understanding of physiology, particularly when novel biologic agents are utilized with commonly used regimens. The molecular classification in patients with diffuse large B-cell lymphoma (DLBCL) is multifaceted, particularly with the expansion of novel molecular targets. The pharmacological and medical management of hematologic malignancies with a tendency to have central nervous system (CNS) involvement is complex and requires an understanding of physiology and pharmacology...
January 8, 2018: Curēus
Samuel Carbunaru, Robert S Eisinger, Adolfo Ramirez-Zamora, Dana Bassan, Amin Cervantes-Arriaga, Mayela Rodriguez-Violante, Daniel Martinez-Ramirez
Objectives: Impulse control disorders (ICDs) are common among patients with Parkinson's disease (PD). Risk factors identified for developing ICDs include young age, family history, and impulsive personality traits. However, the association of these potentially disabling disorders with nondopaminergic drugs and sleep disorders has been understudied. Our objective was to examine the association between ICDs and nondopaminergic medications and sleep disorders. Methods: We conducted an observational study of 53 patients with PD from the National Institute of Neurology and Neurosurgery...
March 2018: Brain and Behavior
Furkan Diren, Serra Sencer, Tayfun Hakan
Objective: Arteriovenous malformation (AVM) is the most common form of intracranial vascular malformations in adults. Intracranial pediatric AVMs are rare. AVM located in the vicinity of the brain stem in children are even more rare. Case report: This study reports a rare case of acute obstructive hydrocephalus following aqueductal stenosis caused by an unruptured grade IV perimesencephalic arteriovenous malformation. An 11-year-old boy admitted to the hospital with progressive headache, nausea and vomiting throughout a month...
2018: Open Neuroimaging Journal
Go Eun Choi, Byung Hyun Moon, Sung Do Lee, Eu Jen Jeung, Dong Hun Lee, Yong Soo Cho, Byeong Kook Lee, Yang Jun Kang, Seong Min Choi, Seung Han Lee, Hyun Ho Ryu, Jeong Moon, Byeong Jo Chun, Tag Heo, Yong Il Min
OBJECTIVE: To evaluate the effectiveness of brain magnetic resonance imaging in excluding neurological causes in patients with syncope. METHODS: This retrospective, observational, cohort study was conducted at the Chonnam National University Hospital, Gwangju, South Korea, and comprised medical record of patients with syncope from January 2011 to February 2016. The ratio of abnormal findings, the characteristics of the patients who showed abnormal findings and the relationships between the presence of neurological problem and other clinical factors were analysed...
March 2018: JPMA. the Journal of the Pakistan Medical Association
Arthur Stacey, Claire Toolis, Vijeya Ganesan
BACKGROUND AND PURPOSE: Recurrent ischemic events are common in children with arterial ischemic stroke (AIS) and put patients at risk for further neurological impairment. This study sought to identify rates and risk factors for recurrent AIS or transient ischemic attack in a cohort of children seen after index AIS and uniformly investigated and managed using contemporary clinical guidelines. METHODS: Case note and radiology review of children >28 days and <18 years of age who presented to Great Ormond Street Hospital from 2005 to 2015 with index AIS...
March 14, 2018: Stroke; a Journal of Cerebral Circulation
Ronan O'Malley, Ganesh Rao, Penelope Stein, Oliver Bandmann
The diagnosis of acute intermittent porphyria (AIP) is often overlooked. We describe a patient with this condition who had all the 'bells and whistles', in whom the diagnosis was only made after considerable delay. Far from an esoteric condition haunting examination candidates, AIP is an important cause of a broad spectrum of neurological symptoms. Its early recognition allows the astute clinician to prevent potentially devastating sequelae. We provide practical guidance on the investigation and management of this complex disorder...
March 14, 2018: Practical Neurology
H M M T B Herath, S P Pahalagamage, Sunethra Senanayake
BACKGROUND: The pathogenesis of osmotic demyelination syndrome is not completely understood and usually occurs with severe and prolonged hyponatremia, particularly with rapid correction. It can occur even in normonatremic patients, especially who have risk factors like alcoholism, malnutrition and liver disease. Bilateral tongue fasciculations with denervation pattern in electromyogram is a manifestation of damage to the hypoglossal nucleus or hypoglossal nerves. Tongue fasciculations were reported rarely in some cases of osmotic demyelination syndrome, but the exact mechanism is not explained...
March 14, 2018: BMC Research Notes
James H Rimmer, Cassandra Herman, Brooks Wingo, Kevin Fontaine, Tapan Mehta
BACKGROUND: Hybrid research designs targeting adults with neurologic disability are critical for improving the efficiency of models that can identify, track and intervene on identified health issues. METHODS: Our Russian doll framework encompasses three study phases. Phase 1 involves prospectively following a cohort of participants with disability to examine the relationships between rates of health and functional deficits (e.g., pain, fatigue, deconditioning), functional measures (e...
March 14, 2018: BMC Medical Research Methodology
Yuan Sheng Tao, Shang Guo Piao, Ying Shun Jin, Ji Zhe Jin, Hai Lan Zheng, Hai Yan Zhao, Sun Woo Lim, Chul Woo Yang, Can Li
BACKGROUND: Accumulating evidence suggests that a decrease in brain-derived neurotrophic factor (BDNF) level induces a variety of psychiatric and neurological disorders. However, the expression and role of BDNF in the kidney have not been explored. The present study examined the expression of BDNF and tropomyosin-related kinase (Trk) receptors in an experimental model of chronic cyclosporine A (CsA) nephropathy. METHODS: Sprague-Dawley rats on a salt-deplete diet were treated daily for four weeks with vehicle or CsA...
March 14, 2018: BMC Nephrology
Markus Kneihsl, Christian Enzinger, Kurt Niederkorn, Gerit Wünsch, Lisa Müller, Valeriu Culea, Andreas Lueger, Franz Fazekas, Thomas Gattringer
BACKGROUND: Stroke has become a treatable condition with increasing evidence of treatment benefits in older people. However, stroke mimics in geriatric patients are especially prevalent, causing incorrect suspicion and consecutive burden to patients and emergency room resources. We therefore examined the dimension of this problem by investigating emergency room admissions from nursing homes for suspected stroke. METHODS: We performed a retrospective cohort study of all nursing home residents who were admitted to the neurological emergency room of our primary and tertiary care university hospital between 2013 and 2015...
March 14, 2018: Cerebrovascular Diseases
Katharine Bailey, Nancie Im-Bolter
Epilepsy is the number one neurological disorder in children in western society. Childhood epilepsy is highly comorbid with psychopathology. Although neurological and biological factors may partially explain the increased risk of psychopathology in children with epilepsy, social contextual factors are also important to understanding development of psychopathology in children with epilepsy. The current paper examines the development of children with epilepsy utilizing Bronfenbrenner's micro-, meso-, exo-, and macrosystem social contexts...
March 7, 2018: Seizure: the Journal of the British Epilepsy Association
Cheng-Jin You, Dan Liu, Li-Li Liu, Guo-Zhong Li
The present study was to examine the relationship between white matter lesions (WMLs) and insulin resistance (IR) in patients with acute stroke and evaluate clinical prognosis.Around 200 patients with initial onset of acute stroke including 146 patients (73.0%) with WMLs and 54 patients (27%) without WMLs were analyzed by neuropsychological scales. Fasting blood glucose (FBG), fasting insulin, blood lipid, homocysteine (Hcy), high-sensitivity C-reactive protein (hs-CRP), creatinine, and uric acid, diabetes mellitus (DM), prediabetes (PD), and normal glucose (NG) were determined according to HbA1c levels...
March 2018: Medicine (Baltimore)
Michael Tchirikov, Erich Saling, Gauri Bapayeva, Michael Bucher, Oliver Thews, Gregor Seliger
In the first case, the AA and glucose were infused through a perinatal port system into the umbilical vein at 30 weeks' gestation due to severe IUGR. The patient received daily hyperbaric oxygenation (HBO, 100% O2 ) with 1.4 atmospheres absolute for 50 min for 7 days. At 31+4  weeks' gestation, the patient gave birth spontaneously to a newborn weighing 1378 g, pH 7.33, APGAR score 4/6/intubation. In follow-up examinations at 5 years of age, the boy was doing well without any neurological disturbance or developmental delay...
March 2018: Physiological Reports
Stephen T Casper
OBJECTIVE: To review the intellectual history of concussion from the mid-19th century to the opening decade of the 21st century. BACKGROUND: Head injuries (HI) and their acute and long-term effects have been investigated for centuries, with major reviews of the topic appearing by 1870. Thus, while it has long been acknowledged that chronic traumatic encephalopathy was first described by Harrison Martland in 1928, an examination of the history of concussion research up to Martland's seminal report places his studies in a deeper historical context...
March 14, 2018: Headache
Stefano Tozza, Raffaele Dubbioso, Rosa Iodice, Antonietta Topa, Marcello Esposito, Lucia Ruggiero, Emanuele Spina, Anna De Rosa, Francesco Saccà, Lucio Santoro, Fiore Manganelli
Niemann-Pick disease type C (NPC) is a recessive lysosomal lipid storage disorder characterized by central nervous system involvement. Miglustat treatment might improve or stabilize neurological manifestations but there is still limited data on the long-term efficacy. The aim of our study was to report a four-year clinical, neuropsychological and electrophysiological follow-up of two sisters under treatment with miglustat. We report data at basal (T0) and after 4 years (T4) of treatment with miglustat from two sisters (P1 and P2) affected by NPC disease...
March 13, 2018: Neurological Sciences
Richard Rammo, Karam Asmaro, Lonni Schultz, Lisa Scarpace, Salim Siddiqui, Tobias Walbert, Steven Kalkanis, Ian Lee
Cerebral radiation necrosis (CRN) is a known complication of radiation therapy. Treatment options are limited and include steroids, bevacizumab, and surgery. This study seeks to determine the safety of laser interstitial thermal therapy (LITT) for CRN and identify the pattern of post-ablation volume change over time. Patients undergoing LITT for tumor treatment at Henry Ford Hospital between November 2013 and January 2016 with biopsy-confirmed CRN were prospectively collected and retrospectively reviewed with attention to ablation volume, survival, demographic data, steroid dose, and complications...
March 13, 2018: Journal of Neuro-oncology
Alessia Pellerino, Luca Bertero, Roberta Rudà, Riccardo Soffietti
Neoplastic meningitis (NM) is a devastating complication of solid tumors with poor outcome. Some randomized clinical trials have been conducted with heterogeneous inclusion criteria, diagnostic parameters, response evaluation and primary endpoints. Recently, the Leptomeningeal Assessment in Neuro-Oncology (LANO) Group and the European Society for Medical Oncology/European Association for Neuro-Oncology have proposed some recommendations in order to provide diagnostic criteria and response evaluation scores for NM...
2018: Therapeutic Advances in Neurological Disorders
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