bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hyaline Body Myopathy: Adulthood Manifestations
Authors: Rafay Mubeen F. , Halliday William , Bril Vera 
Published: December 2014

ABSTRACT:Background:Hyaline body myopathy (HBM) is a rare chronic nonprogressive congenital myopathy, with variable patterns of inheritance.Methods:We describe a patient with congenital HBM with progression of weakness and increasing muscle pain in adulthood. Three muscle biopsies, done at various times in her life, are reported.Results:Symptoms started during childhood; however, as an adult, following a period of stability with no progression of the disease, the patient became symptomatic with worsening proximal limb weakness, severe aching pain and hypertrophy of calves. Moderate elevations of serum creatine kinase and myopathic features were noted on electrophysiologic testing. Muscle pathology showed significant fatty infiltration of skeletal muscle and increased number of fibers with internal nuclei. Histology demonstrated the presence of subsarcolemmal, well-delineated hyaline areas, which on histochemical studies was shown to be limited to type1 fibers. The hyaline bodies were dark with pH 4.2 ATPase and with immunohistochemical studies reacted only with myosin heavy chain slow. Electron microscopy showed the hyaline bodies to be composed of nonmembrane bound, fairly even sized granular material, which merged with the adjacent myofibrils. Earlier muscle biopsies, done during childhood, also revealed presence of similar subsarcolemmal hyaline deposits.Conclusion:There appears to be a pattern of presentation with adulthood progression in HBM, which has not been described before. Further case studies are required to understand the clinical progression in HBM.
Methadone in the Management of Intractable Neuropathic Noncancer Pain
Authors: Moulin D. E. , Palma D. , Watling C. , Schulz V. 
Published: December 2014

ABSTRACT:Objective:To evaluate the role of methadone in the management of intractable neuropathic noncancer pain.Methods:A case series of 50 consecutive noncancer pain patients who were seen at a tertiary care centre and treated with oral methadone for a variety of intractable neuropathic pain states.Results:The mean age was 52.7 years and the mean duration of follow-up was 13.9 months. Post-discectomy nerve root fibrosis, complex regional pain syndrome, peripheral neuropathy and central spinal cord pain syndromes were the most common diagnoses. Over 90% had been treated with one or more tricyclic antidepressants and anticonvulsants and a similar number had received other adjuvant analgesics. All patients had failed treatment with one or more conventional opioid analgesics (mean 2.8) at a mean maximal morphine dose of 384 mg (or equivalents) per day. Twelve patients had failed spinal cord stimulation. Nineteen patients (38%) did not tolerate initial methadone titration or thought their pain was worse on methadone. Five patients (10%) declared initial benefit but required repetitive dose escalation and eventually became non-responders. Twenty-six patients (52%) reported mild (4), moderate (15), marked (6) or complete (1) pain relief and continued on methadone at a mean maintenance dose of 159.8 mg/day for a mean duration of 21.3 months. Fourteen patients (28%) reported improved function on methadone relative to previous treatments.Conclusions:Methadone appears to have unique properties including N-methyl-D-aspartate antagonist activity that may make it especially useful in the management of intractable neuropathic pain. This observation needs to be tested in randomized, controlled trials.
Progress in Clinical Neurosciences: Measuring the Benefit of Therapies for Neurological Disorders
Authors: Bussière Miguel , Wiebe Samuel 
Published: December 2014

ABSTRACT:Background:Clinicians in the neurosciences need to interpret and apply a growing body of evidence about therapy.Methods:Using a clinical scenario about painful diabetic neuropathy and evidence about one treatment option, we review the advantages, limitations, and the clinical interpretation of commonly reported measures of effectiveness, emphasizing their application to the care of individual patients.Results:Absolute differences between treatment and control groups (e.g., absolute risk difference) are clinically intuitive and preferable to relative measures (e.g., relative risk). The number needed to treat is particularly useful and clinically applicable. Continuous measures are best interpreted using thresholds of clinically important change, which provide information about the number of patients experiencing meaningful improvement or worsening.Conclusions:Using simple principles of evidence based care, clinicians can correctly interpret the common measures of treatment effectiveness and apply them to the care of individual patients.
Hereditary Ataxia, Spastic Paraparesis and Neuropathy in the French-Canadian Population
Authors: Dupré Nicolas , Bouchard Jean-Pierre , Brais Bernard , Rouleau Guy A. 
Published: December 2014

ABSTRACT:Historical events have shaped the various regional gene pools of the French-Canadian (FC) population, leading to increased prevalence of some rare diseases. The first studies of these founder effects were performed in large part by astute clinicians such as André Barbeau. In collaboration with others, he contributed greatly to the delineation of phenotypic subtypes of these conditions. As such, the following neurogenetic disorders were first identified in patients of FC origin: AOA2, ARSACS, HSAN2, RAB, and HMSN/ACC. We have summarized our current knowledge of the main hereditary ataxias, spastic parapareses and neuropathies that are particular to the FC population. The initial genetic characterization of the more common and homogeneous of these diseases has been largely completed. We predict that the regional populations of Canada will allow the identification of new rare forms of hereditary ataxias, spastic parapareses and neuropathies, and contribute to the unravelling of the genetic basis of these entities.
Radiosurgical Retreatment for Brain Arteriovenous Malformation
Authors: Mirza-Aghazadeh Javad , Andrade-Souza Yuri M. , Zadeh Gelareh , Scora Daryl , Tsao May N. , Schwartz Michael L. 
Published: December 2014

ABSTRACT:Objective:To analyze our experience with a second radiosurgical treatment for brain arteriovenous malformations (BAVMs) after an unsuccessful first radiosurgical treatment.Methods:Between 1993 and 2000, 242 patients were treated by the Toronto Sunnybrook Regional Cancer Center using a LINAC system. Fifteen of these patients required a second radiosurgical intervention due to the failure of the first procedure. Data was collected on baseline patient characteristics, BAVM features, radiosurgery treatment plan and outcomes. Brain arteriovenous malformation obliteration was determined by follow-up MRI and angiography and the obliteration prediction index (OPI) calculated according to a previously established formula.Results:The median interval between the first and second treatment was 46 months (range 39-109). The median follow-up after the second procedure was 39 months (range 26 to 72). The mean BAVM volume before the first treatment was 8.9cm3 (range 0.3-21) and before the second treatment was 3.6cm3 (range 0.2-11.6). The mean marginal dose during the first treatment was 18Gy (range 12-25) and during the second treatment was 16Gy (range 12-20). After the second treatment, nine patients had obliteration of their BAVM confirmed by angiography and one patient had obliteration confirmed by MRI, resulting in an obliteration rate of 66.6%, which is very comparable to that predicted by the OPI (65%). After the second treatment two patients had a radiation-induced complication (13.3%).Conclusion:Retreatment of BAVM using a second radiosurgery procedure is a safe and effective option that offers the same rate of success as the initial radiosurgery and an acceptable risk of radiation-induced complication.
A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough
Authors: Larue Sandrine , Verreault Steve , Gould Peter , Coulthart Michael B. , Bergeron Catherine , Dupré Nicolas 
Published: December 2014

ABSTRACT:Background:Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encodingPrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.Case Report:Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in thePRNPgene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.Conclusions:The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.
Canadian Association of Neurosciences Review: Polyglutamine Expansion Neurodegenerative Diseases
Authors: Truant Ray , Raymond Lynn A. , Xia Jianrun , Pinchev Deborah , Burtnik Anjee , Atwal Randy Singh 
Published: December 2014

ABSTRACT:Since the early 1990s, DNA triplet repeat expansions have been found to be the cause in an ever increasing number of genetic neurologic diseases. A subset of this large family of genetic diseases has the expansion of a CAG DNA triplet in the open reading frame of a coding exon. The result of this DNA expansion is the expression of expanded glutamine amino acid repeat tracts in the affected proteins, leading to the term, Polyglutamine Diseases, which is applied to this sub-family of diseases. To date, nine distinct genes are known to be linked to polyglutamine diseases, including Huntington's disease, Machado-Joseph Disease and spinobulbar muscular atrophy or Kennedy's disease. Most of the polyglutamine diseases are characterized clinically as spinocerebellar ataxias. Here we discuss recent successes and advancements in polyglutamine disease research, comparing these different diseases with a common genetic flaw at the level of molecular biology and early drug design for a family of diseases where many new research tools for these genetic disorders have been developed. Polyglutamine disease research has successfully used interdisciplinary collaborative efforts, informative multiple mouse genetic models and advanced tools of pharmaceutical industry research to potentially serve as the prototype model of therapeutic research and development for rare neurodegenerative diseases.
Cardioembolism: A Rare Cause of Jaw Claudication
Authors: Toffoli Daniela , Élysée Stanley , Dominguez Manuel J. , Lanthier Sylvain 
Published: December 2014

Jaw claudication (JC) results from ischemia of the masticatory muscles, typically caused by temporal arteritis and other arteriopathies affecting the external carotid artery (ECA).We documented a case of JC resulting from cardioembolic occlusion of the ECA and searched both English and French literature on the Medline database (1966-October 2006) to identify previous reports. We combined the keywords “jaw claudication” with either “cardiogenic embolism”, “cardiac embolism”, “cardioembolism”, “etiology”, “cause”, or “carotid occlusion”.
Systemic Lupus Erythematosus and Right Leg Weakness
Authors: Steckley J. L. , Tartaglia M. C. , Reddy H. , Huang S. , Hammond R. , Hyson C. 
Published: December 2014

A 40-year old female presented to the emergency room at London Health Sciences Centre with a one week history of gradually progressive right leg weakness which had caused several falls. She also described numbness of the right arm and leg. In the two weeks leading up to admission she experienced gradually worsening shortness of breath, fatigue, anorexia, confusion, night sweats and somnolence. She also developed a herpetic rash of the right upper thigh which was treated with acyclovir and gabapentin.Her past medical history was significant for a diagnosis of systemic lupus erythematosis (SLE) for seven years, treated at the time of admission with azathioprine 50 mg TID (several years duration), prednisone 5 mg BID, and hydroxyquine 400 mg daily. She also had a history of asthma and occasionally required Ventolin treatment. She had a 25 pack-year smoking history.
Rapid Evaluation after High-Risk TIA is Associated with Lower Stroke Risk
Authors: Wu Caren M. , Manns Braden J. , Hill Michael D. , Ghali William A. , Donaldson Cam , Buchan Alastair M. 
Published: December 2014

Background:Current ‘standard of care’ for patients presenting with a ‘high-risk’ TIA varies, with use of several outpatient and inpatient approaches. We describe the clinical outcomes and costs for high risk TIA patients who received care in a ‘rapid evaluation unit’, and compare these to a historical ‘high-risk’ cohort.Methods:The study cohort was comprised of patients with TIA admitted to a ‘rapid evaluation unit’ during the period March 2002 to April 2003. The comparison cohort was established by screening Calgary Health Region ER discharge records to identify all patients presenting with a diagnosis of TIA during the year 2000. A ‘high-risk standard care cohort’ was then identified based on the clinical admission criteria used to select patients for the rapid evaluation unit. Outcomes (stroke within 90 days, death) and costs were identified using chart review and provincial administrative data.Results:The early risk of stroke in the high risk standard care group (392 patients) was 9.7%, compared to 4.7% in the rapid evaluation cohort (189 patients) (p=0.05). Median 1-year costs post TIA were CAN$8360 for patients in the rapid evaluation cohort, compared with CAN$4820 for patients in the high risk standard care group (p<0.001).Conclusions:The risk of early stroke was lower for patients in the rapid evaluation cohort compared to the high risk standard care cohort, suggesting that the use of rapid evaluation programs in patients with TIA at high risk of stroke may be beneficial, but incur greater costs over the course of the first year.
Intra-Familial Incidence and Characteristics of Hot Water Epilepsy
Authors: Kaplan Yuksel , Kurt Semiha G. , Karaer Hatice , Sarikaya Basar , Bebek Nerses 
Published: December 2014

Objective:To assess the clinical features of several members of the same family diagnosed with both hot water epilepsy (HWE) and cerebral lesions.Methods:Age at onset and types of seizure, precipitating factors, EEG findings, and neuroimages were evaluated.Results:The family consisted of six generations, including one consanguineous parent. Of eight family members diagnosed with epilepsy, seven suffered from HWE. Age at onset of seizures ranged within childhood. Seven patients with HWE experienced complex partial seizures, with or without secondary generalization; one experienced simple partial seizures as well as complex partial seizures. Three patients experienced spontaneous seizures as well as HWE. Interictal EEG revealed abnormalities in two patients. Magnetic resonance imaging revealed cerebral lesions in one patient, probably attributable to ischemic changes. Magnetic resonance images were consistent with findings of ischemic gliosis in two patients, and either demyelinating or ischemic gliosis in one patient.Conclusions:Descriptions of HWE families with different ethnic backgrounds may permit more definite conclusions regarding the mechanisms epileptogenesis, and the genetic defects that underlie this disease.
Unruptured Cerebral Aneurysms Presenting with Ischemic Events
Authors: McLaughlin Nancy , Bojanowski Michel W. 
Published: December 2014

Background:Patients harboring an unruptured cerebral aneurysm may present with ischemic events. The goal of this study is to assess the clinical and radiological characteristics and the outcome following treatment of these patients.Methods:The study population included 463 patients with unruptured cerebral aneurysms treated between January 2000 and November 2006. Patients with aneurysms manifesting with ischemic events were included. Outcome was assessed 12 months following aneurysm treatment using the modified Rankin scale.Results:Eleven patients were included in this series. An acute ischemic lesion in the symptomatic territory was demonstrated in six patients. The aneurysms were located on the internal carotid artery (n=4), middle cerebral artery (n=4), superior cerebellar artery (n=2) and basilar artery (n=1). They measured 10mm or less (n=7); 11-20mm (n=2); more than 21mm (n=2). Five aneurysms were partially thrombosed on imaging. Five patients were referred for coiling. Of these, one patient had an unsuccessful coiling attempt, one had a residual neck, and three presented an aneurysm recurrence. Six patients were treated surgically. Symptomatic thromboembolism occurred after surgery in three patients. Complete aneurysm exclusion was documented in five of six operated patients. Nine of the ten treated patients had a favorable outcome.Conclusion:Even though aneurysms presenting with ischemic events are often small and located on the anterior circulation, in this series the risk of thromboembolic events following aneurysm treatment is noteworthy. This information is relevant given the possible benign natural history in terms of stroke and risk of bleeding for some of these aneurysms.
Oscillatory Characteristics of Nociceptive Responses in the SII Cortex
Authors: Hsiao Fu-Jung , Chen Wei-Ta , Liao Kwong-Kum , Wu Zin-An , Ho Low-Tone , Lin Yung-Yang 
Published: December 2014

Objective:This study is aimed to explore the frequency characteristics of pain-evoked neuromagnetic responses in the secondary somatosensory (SII) cortices.Methods:Thulium-laser nociceptive stimuli to the left hand dorsum of 10 right-handed healthy adults. The pain stimuli were rated as mild, moderate, and severe levels according to subjects' reports on a 10-point visual analog scale. We analyzed their cortical responses with wavelet-based frequency analyses and equivalent current dipole (ECD) modeling.Results:For each pain level, we found an increase of theta (4-8 Hz) and alpha (8-13 Hz) power in bilateral SII areas at 180-210 ms after stimulus onset. The power was larger for the moderate than for the mild pain level (p < 0.05), but there was no statistical power difference of these oscillations between moderate and severe pain stimulus conditions (p = 0.7). Within the SII area, we did not observe particular difference in theta and alpha ECD locations between varying pain level conditions.Conclusions:The 4-13 Hz activities, peaking from 180 to 210 ms, are oscillatory correlates of SII activation in response to nociceptive stimulation, but their power may code the magnitude of pain stimuli only up to moderate level, as rated subjectively. This measure could be potentially used to evaluate SII activation in further pain studies.
The Thumb Rolling Test: A Novel Variant of the Forearm Rolling Test
Authors: Nowak Dennis A. 
Published: December 2014

Abstract:Background:Neurologists use a variety of tests to detect subtle upper motor neuron lesion causing a mild motor impairment of the upper limb. The forearm and index finger rolling tests are some of these. Their sensitivity varies, but in general these tests appear to be more likely to be abnormal in mild motor impairment of the arm and hand due to a cortico-spinal tract lesion than tests of power, muscle tone or reflexes. Thumb rolling involves more distal limb segments than forearm rolling and distal limb segments are typically more affected than proximal limb segments after cerebral lesions to the cortico-spinal tract.Methods:Thumb rolling was tested, in comparison to pronator drift, forearm rolling and index finger rolling, for its sensitivity to detect a cerebral lesion of the cortico-spinal tract in 17 consecutive patients with mild pure motor stroke affecting only one arm and hand.Results:Thumb rolling is more sensitive (88%) than pronator drift (47%), forearm rolling (65%) and index finger rolling (65%) to detect a cerebral lesion of the cortico-spinal tract in mild pure motor stroke of the upper limb.Conclusion:The thumb rolling test may be a valuable adjunct clinical test to detect a subtle lesion of the cortico-spinal tract causing mild pure motor stroke of the arm and hand when the remainder of routine neurological examination is unremarkable.
Stereopsis in Drug Naïve Parkinson's Disease Patients
Authors: Kim Seung-Hyun , Park Ji-Hye , Kim Yu Hwan , Koh Seong-Beom 
Published: December 2014

Background:Motor deficits associated with Parkinson's disease (PD) have been well described, yet little attention has been paid to non-motor symptoms, especially cortical visual dysfunction. We investigated stereopsis, as well as the relationship between stereopsis and other cognitive function, in a sample of PD patients.Methods:We used Titmus stereotest plates for assessing stereopsis. Fifty-nine subjects (29 PD patients and 30 normal controls) were included in this study. The included patients underwent a neurological examination, clinical rating scale and neuropsychological tests.Results:Drug naïve PD patients showed decreased stereopsis on the Titmus fly stereopsis test (Pearson χ2=23.80, p<0.001) compared to PD patients with normal stereopsis. The Hoehn-Yahr stages and Unified Parkinson's Disease Rating Scale motor scores were significantly higher in patients with PD with abnormal stereopsis than in patients with PD with normal stereopsis (p=0.026; p=0.046). The frequency of abnormal visual perception/constructive function was greater in patients with PD with abnormal stereopsis compared to patients with PD with normal stereopsis (Pearson χ2=5.11, p=0.024).Conclusion:These findings suggest that stereopsis deficits and visual perception/constructive dysfunction are common in de novo PD patients.
The Toronto Observational Study of Natalizumab in Multiple Sclerosis
Authors: Krysko Kristen M. , O'Connor Paul W. 
Published: December 2014

Background:Natalizumab is indicated for the treatment of relapsing multiple sclerosis (MS) with insufficient response to first-line disease-modifying therapy (DMT). We studied the efficacy of natalizumab for treatment of MS in a single centre observational design.Methods:A retrospective observational study of 146 patients [66% female; mean age 37.4; 72% relapsing remitting MS (RRMS), 28% secondary progressive MS (SPMS)] referred for natalizumab treatment at St. Michael's Hospital MS Clinic between 2007 and August 2009. Data included demographic, clinical (Expanded Disability Status Scale (EDSS) and annualized relapse rate (ARR)) and patient self-report measures.Results:The mean duration of treatment was 20 months in those treated with natalizumab and 97% had received prior DMTs. Eighty-three patients (57%) received at least 12 months of natalizumab treatment. In those who received at least 12 months of treatment, baseline ARR and EDSS were 1.6 and 2.7 in RRMS patients versus 1.0 and 5.4 in SPMS with relapses. The ARR decreased with natalizumab treatment to 0.38 (76% reduction, p<0.001) in RRMS versus 0.32 in SPMS patients (68% reduction, p=0.01). There was a treatment associated 11% reduction in EDSS to 2.4 (p=0.04) in RRMS, but no significant change in SPMS. Eighty-five percent of patients reported improved overall quality of life (QOL) and 62% indicated improved energy.Conclusions:There was a major reduction in relapse rate, stabilization in EDSS and improvement in QOL and energy in some patients on natalizumab, all similar to treatment effects in the pivotal trial.