bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical and Electrophysiological Study in French-Canadian Population with Charcot-Marie-Tooth Disease Type 1A Associated with 17p11.2 Duplication
Authors: Dupré Nicolas , Bouchard Jean-Pierre , Cossette Louise , Brunet Denis , Vanasse Michel , Lemieux Benard , Mathon Gilles , Puymirat Jack 
Published: December 2014

Background:The aim of the present study was to examine the frequency and the phenotypic manifestations in a French-Canadian population with a chromosome 17p11.2 duplication (Charcot-Marie-Tooth type 1A, CMT-1A).Methods:Molecular analysis were performed by Southern blot using pVAW409R3a probe. Clinical evaluation was carried out according to the scale defined by the European HMSN Consortium.Results:The frequency of duplication was found to be similar in the adult (70.8%) and pediatric (72.7%) populations. Onset of symptoms occurred before 20 years of age in 85.7% of adult cases and before the age of 5 in 80% of the pediatric cases. The classical CMT syndrome was observed in 77% of the cases and the syndrome was associated with additional features in 15% of cases in the adult population. All the children presented with classical CMT syndrome with no additional features. There was a significant correlation between the disability score and the duration of the disease but no correlation was found between median nerve conduction velocity and the functional handicap, the age at onset or the duration of the disease. In one family, there was a very conspicuous anticipation over five observed generations.Conclusion:This study reveals that the age at onset, the clinical and electrophysiological variability as well as the functional disability variations in a French-Canadian population did not differ from those reported in other populations.
Pseudo-Myasthenia Gravis and Thymic Hyperplasia in Graves’ Disease
Authors: Nicolle Michael W. 
Published: December 2014

Background:Diagnostic confusion between thyroid disease and myasthenia gravis (MG) can arise because the two may have similar clinical features, and also because of the more frequent coexistence of these autoimmune disorders in the same individual. In MG, autoantibodies directed against the acetylcholine receptor result in muscle weakness. Thymic pathology is well recognized in MG, with thymic hyperplasia frequent in early onset MG and thymoma more common in later onset MG. In Graves’ disease, autoantibodies against thyroid antigens result in hyperthyroidism. A seldom-recognized feature of Grave’s disease is the occurrence of an enlarged thymus (thymic hyperplasia) on chest CT, or of thymic lymphoid hyperplasia pathologically.Case study:This report describes a case in which the discovery of a mediastinal mass during imaging of the thyroid, and the presence of myasthenic-like symptoms, in a patient with Graves’ disease prompted investigations into whether the patient also had MG.Results:Despite symptoms which strongly suggested MG, subsequent investigations did not confirm the diagnosis, and treatment of Grave’s lead to a resolution of the symptoms and regression of the thymic enlargement seen on CT.Conclusion:The case study highlighted clinical similarities between Grave’s disease and myasthenia gravis which might cause diagnostic confusion, and also the investigations which are useful in order to differentiate the two diseases. In addition to common clinical features, the autoimmune diseases Grave’s disease and myasthenia gravis may both produce radiological thymic enlargement.
Isolated Trigeminal Neuropathy due to Trigeminal Nerve Root Hemorrhage
Authors: Almeida S. , Chalk C. , Minuk J. , Carpio R. Del , Guerin M. , Levental M. 
Published: December 2014

Background:Isolated trigeminal neuropathy is uncommon; causes include trauma, inflammation, or neoplasm.Methods:We report a patient who fell and struck his head during a myocardial infarction, was treated with streptokinase, and developed symptoms and signs of an isolated trigeminal sensory neuropathy.Results:Imaging showed hemorrhage in the trigeminal nerve root; follow-up imaging showed resolution of the hemorrhage, but no underlying structural lesion.Conclusion:A combination of head trauma plus thrombolysis resulted in an isolated trigeminal neuropathy.
Ganglioglioneurocytoma of the Posterior Fossa
Authors: Alkhani Ahmed M. , Bilbao Juan M. , Medline Paul , Ogundimu Fadegbola A. 
Published: December 2014

Objective and Importance:Ganglioglioneurocytoma is not yet a well defined clinical and histopathological entity; recent reports outline the histopathological features of this very rare trimorphous tumor, under different names with its basic components of gangliocytoma, neurocytoma and glioma. Four previous reports described this tumor in eleven patients. This is the first case report describing ganglioglioneurocytoma in the posterior fossa.Clinical Presentation and Intervention:A 31-year old male with midline posterior fossa ganglioglioneurocytoma is described, providing the neuroimages and histopathological studies.Conclusion:Ganglioglioneurocytoma is a rare mixed neuronal and glial tumor that can also occur in the posterior fossa.
Acute Quadriplegic Myopathy Unrelated to Steroids or Paralyzing Agents: Quantitative EMG Studies
Authors: Höke Ahmet , Zochodne Douglas W. , Rewcastle N. B. 
Published: December 2014

Background:Quadriplegic myopathy (QM) and its variants generally are described in critically ill patients who are exposed to steroids and nondepolarizing muscle blocking agents (NDMBAs).Methods:A patient with sepsis who was not exposed to steroids or an NDMBA infusion developed QM and was studied using serial quantitative electromyography.Results:Clinical and electrophysiological studies identified evidence of a severe myopathy and muscle biopsy showed necrosis, calcifications and selective loss of myosin filaments in non-necrotic fibers. Her clinical recovery paralleled rises in motor unit action potential (MUAP) amplitudes studied by serial automatic decomposition electromyography (ADEMG).Conclusion:QM can develop with sepsis and without significant exposure to steroids and NDMBAs. ADEMG can be a useful tool in electrophysiological evaluation of critically ill patients with weakness.
Transient Hemifacial Sensory Loss with Xerophthalmia following Temporal Lobectomy
Authors: Thomas Ajith J. , Elisevich Kost , Smith Brien 
Published: December 2014

Objective and importance:The occurrence of a unilateral sensory loss in the second trigeminal distribution and the inability to tear following an ipsilateral temporal lobectomy has not been noted despite a number of reports of cranial nerve compromise under similar situations.Clinical presentation:A 48-year-old woman experienced complex partial seizures over three years attributable to the presence of cavernous malformations of the right temporal lobe.Intervention:An anterior temporal extrahippocampal resection was performed. The surgery was marked by the need for electrocoagulation of the dural base of the temporal lobe where numerous bleeding points were encountered. Postoperatively, the patient experienced an ipsilateral maxillary division sensory loss, absence of tearing, and diminished nasal congestion for an eight-month period until resolution.Conclusion:Injury of the fibers of the maxillary division of the trigeminal nerve and the adjacent greater superficial petrosal nerve appears to be the cause. No prior account of such an occurrence has been published.
Familial Autoimmune Myasthenia Gravis: Four Patients Involving Three Generations
Authors: Marrie R.A. , Sahlas D.J. , Bray G.M. 
Published: December 2014

Background:Familial autoimmune myasthenia gravis (MG) is rare, although a genetic role for the development of autoimmune MG is suggested by concordance in monozygotic twins and the increased frequency of other autoimmune diseases in family members of myasthenics.Methods:A patient with a family history of MG was evaluated in hospital. Relatives were interviewed and medical records examined for details regarding the diagnosis of MG in three other family members.Results:The index case first experienced symptoms of MG at age 75 years. She developed generalized MG and required corticosteroids and immunosuppressive therapy to control her disease. Her father developed predominantly bulbar symptoms of MG at age 75 years. He died of complications experienced following a gastrostomy placed for continued difficulty swallowing. His brother developed similar symptoms of MG in his early 60s and died shortly after thymectomy. A 46-year-old nephew of the index case is also beginning to exhibit signs of generalized MG. Acetylcholine receptor antibodies were strongly positive in the index case and her nephew. (The assay was not available for her father and uncle).Conclusion:Four individuals in three successive generations had diagnoses of autoimmune MG. Study of familial cases such as these may clarify the contribution of genetic factors to the development of this disease.
Correlation between Tapping and Inserting of Pegs in Parkinson's Disease
Authors: Müller Thomas , Schäfer Sandra , Kuhn Wilfried , Przuntek Horst 
Published: December 2014

Background:Various investigators have developed complex quantitative instrumental procedures for objective assessment of parkinsonian motor impairment, since drawbacks of rating scales are interrater variability, subjective impression, and insensitivity to subtle modifications. Objectives: To determine whether performance of inserting of pegs and tapping (i) correlates with each other (ii) differentiates between parkinsonian subjects and healthy controls and (iii) reflects severity of Parkinson's disease (PD). Subjects andMethods:In 157 previously untreated idiopathic parkinsonian patients and healthy controls, we measured (i) the total time taken to insert 25 pegs from a rack into a series of appropriate holes in a Purdue pegboard-like apparatus and (ii) the number of taps on a contact board with a contact pencil for a period of 32 seconds for assessment of fine motor skills.Results:Results of both tests correlated with each other, differed between parkinsonian subjects and controls and reflected scored severity of PD. Better correlation with intensity of PD was noted with the Purdue pegboard-like task.Conclusion:Both tapping and inserting of pegs represent useful tools for objective evaluation of severity of PD. Peg insertion correlated better with disease severity. Both approaches may be useful in future clinical studies.
Autoantibodies in Childhood Post-Varicella Acute Cerebellar Ataxia
Authors: Adams Coleen , Diadori Paola , Schoenroth Leeanne , Fritzler Marvin 
Published: December 2014

Background:Anti-Purkinje cell antibodies have been reported in cerebellar ataxia following Epstein-Barr virus (EBV) infection. We investigated autoantibody responses, including anti-Purkinje cell antibodies, and the clinical course in eight children who developed post-varicella ataxia, five of their siblings with uncomplicated varicella, one child with post-EBV ataxia, two children with acute disseminated encephalomyelitis (ADEM) and one with neuroblastoma associated ataxia, and in age and gender matched controls.Methods:Autoantibodies were tested by indirect immunofluorescence (IIF) on cryopreserved cerebrum and cerebellum sections. Other autoantibodies were measured by conventional IIF protocols using HEp-2 cells as a substrate. Antibodies to myelin associated glycoprotein (MAG), asialo-GM1, b2 glycoprotein 1, cardiolipin and myelin basic protein (MBP) were measured by ELISA.Results:Three of eight children with acute post-varicella ataxia, one child with post-EBV ataxia, one child with ADEM and one child with uncomplicated varicella, had high titer autoantibodies (<1/160) that reacted with cerebrum and cerebellar tissue. This reactivity was not seen in one child with ADEM, in one with neuroblastoma and ataxia, in the remainder of the children with uncomplicated varicella or age and gender matched controls. Autoantibodies were not seen in CSF from two children with post-varicella ataxia. The punctate staining seen on cerebrum and cerebellum sections co-localized with rabbit antibodies to the centrosome protein pericentrin. All patients with strong reactivity with cerebrum and cerebellar tissue by IIF had elevated levels of anti-MAG that was not confirmed by absorption assay. No reactivity was seen with asialo-GM1, MBP, b2 glycoprotein 1 or cardiolipin. None of the sera had autoantibodies directed against endosomes, the Golgi complex, or the paraneoplastic autoantigens Hu and Yo.Conclusion:Some children with post-viral ataxia develop antibodies that have strong reactivity with cerebral and cerebellar tissue. Some of the antigenic reactivity co-localized with the centrosome protein pericentrin.
How Often Does Routine Pediatric EEG Have an Important Unexpected Result?
Authors: Camfield Peter , Camfield Carol 
Published: December 2014

Background:Electroencephalogram recordings are requested for the assessment of many childhood disorders. To assess the utility of the EEG in children, we studied how often routine EEG results can be correctly predicted from the EEG requisition.Method:Five hundred consecutive initial EEG requests from the IWK Grace Health Centre from two time epochs were examined. All EEGs were 16 channel (10-20 electrode system). Based only on the requisition (patient demographics, referring physician, and reason for EEG), we coded our prediction of the result and then the actual result. When results were discordant from prediction, a judgment was made about the potential importance of the result.Results:Overall, EEG results were correctly predicted in 81%. Prediction for all nonepilepsy reasons was accurate in 91% (n=320) and 96% for paroxysmal nonepileptic events (n=158) but only 59% for epileptic disorders (n=141) (p<0.0001). Neurologists ordered 45% of EEGs, pediatricians 32%, and GP's 17%. Predictions were least accurate for neurologists'requests (p<0.006) however, neurologists were more likely to request EEG for epileptic disorders (p<0.0001). Age of the child and urban versus rural address did not affect the accuracy of prediction.Conclusion:Results of routine pediatric EEG for most nonepilepsy reasons appear highly predictable and therefore, possibly of little value to an experienced clinician. When requested for epilepsy, this “ancient” test remains full of surprises.
Screening for Cognitive Impairment and Dementia in the Elderly
Authors: Patterson Christopher J.S. , Gass David A. 
Published: December 2014

Objective:To review the evidence available to support or refute the recommendation to screen for cognitive impairment (cognitive deficits which do not affect daily function) and dementia in primary care.Data Sources:Medline search using terms listed at the end of this article; consultation with experts in the field; review of other published recommendations.Study Selection:There were no articles which described a randomized controlled trial of screening versus no screening. Studies were therefore chosen which aided in the definition; natural history; interventions and outcomes including possible negative effects.Data Synthesis:No systematic synthesis was performed. Background papers were circulated to a panel of experts prior to the Canadian Consensus Conference on Dementia and conclusions endorsed by consensus.Conclusion:1. There is insufficient evidence to recommend for or against screening for cognitive impairment or dementia. (C); 2. Memory complaints should be evaluated and the individual followed to assess progression. (B); 3. When caregivers or informants describe cognitive decline in an individual, these observations should be taken very seriously; cognitive assessment and careful follow-up are indicated. (A) (See Appendix).
Depressive Syndromes in Dementia
Authors: Thorpe Lilian , Groulx Bernard 
Published: December 2014

Background:Depressive syndromes in dementia are common, treatment is challenging and controlled intervention studies are small in number. The goal of this paper is to review known information about the etiology, epidemiology and treatment of these syndromes, as summarized at the recent Canadian Consensus Conference on Dementia.Methods:A number of Medline searches were performed (most recently updated in October 2000) using the subject categories dementia and depression, or apathy or emotional lability and other relevant articles were also reviewed. The background article was edited and amended at the Consensus Conference on Dementia. Final recommendations appearing in the summary article by Patterson et al were accepted by the group consensus process. Clinical discussion and informational updates were added for the current text by the authors.Results:Depressive syndromes, ranging in severity from isolated symptoms to full depressive disorders, increase in dementia. While clear-cut depressive disorder is increased in this population, sub-syndromal disorders are even more common and cause considerable distress. Antidepressant treatment may improve the quality of life in depressed, demented people, although it is less successful than in those without cognitive impairment and carries more risk of iatrogenic effects.Conclusion:Physicians should be alert to the presence of depressive syndromes in dementia. Depressive illness should be treated and, when necessary, referral should be made to an appropriate specialist. Treatment must minimize iatrogenic effects. Although there is some support for treatment of syndromes that do not meet criteria for depressive disorder or dysthymia, the first line of intervention in these situations should involve nonpharmacological approaches.
Methodology for the Canadian Activase for Stroke Effectiveness Study (CASES)
Authors: Hill Michael D. , Buchan Alastair M. , Investigators The CASES 
Published: December 2014

Background:Intravenous recombinant tissue plasminogen activator (tPA, alteplase) was conditionally licensed for the treatment of acute ischemic stroke (AIS) in Canada on February 17, 1999. As a condition of licensure, the Canadian Activase for Stroke Effectiveness Study (CASES) was established to monitor the use of alteplase for AIS in Canada. The study involves multiple stakeholders.Methods:CASES is a prospective registry of patients treated with alteplase for AIS. The purposes of this registry are to ensure the safety of the drug in the Canadian context, to assess effectiveness of alteplase for AIS and to gather further information to try to establish which patients are most likely to benefit from treatment.Results:Both community (n=25) and tertiary centres (n=35) have enrolled a total of 944 patients to date. Early results suggest that thrombolytic stroke treatment is both safe and effective among these centres.Conclusion:This paper outlines the development of and methods for the CASES study. The study is an example of a multi-stakeholder collaboration to advance the care of patients with acute stroke.
Prospective Analysis of Relationships of Outcome Measures for Ulnar Neuropathy at the Elbow
Authors: Munro Catherine A. , Midha Rajiv , Ho Peter H. , Szalai John Paul , Noble Jason , Patel Vivek 
Published: December 2014

Background:We undertook a prospective study to investigate relationships between outcome measures of ulnar neuropathy at the elbow.Methods:Thirty-one patients (mean age 52.6, range 20-80), with clinically and electrically verified ulnar neuropathy at the elbow, were seen independently by a neurosurgeon and a physiotherapist. All tests were administered to all patients on each visit. Data collected included measures of sensory (monofilament, two-point discrimination, vibration) and motor function (grip, key-pinch, muscle atrophy), pain (visual analogue scale (VAS)) and impact on lifestyle (Levine's questionnaires (function status score - FSS, symptom severity score - SSS)), disability of the arm, shoulder and hand module (DASH) and patient-specific measures (PSM). Parametric and non-parametric correlation and factor analysis were done.Results:Outcome analysis was available for 63 patient visits, with follow-up obtained for 20 patients (mean 8.5 months). Lifestyle and pain instruments (FSS, SSS, DASH, PSM and VAS) all correlated well with each other (r> 0.6, p< .01). DASH was moderately to highly correlated to nine of the 11 measures. Some tests correlated poorly, for example, Semmes-Weinstein monofilament with other sensory measures and muscle atrophy with almost all measures. Factor analysis revealed that there are two principal factors, accounting for 77% of the variance. Factor 1 relates to impact on lifestyle and pain while Factor 2 relates to strength and function.Discussion/Conclusions:Intraclass measures, particularly ones assessing lifestyle and pain instruments are strongly correlated. Factor analysis revealed two principal factors that account for the majority of the variance; future studies with a larger sample size are needed to validate this analysis.
Spontaneous Internal Carotid Artery Dissection with Lower Cranial Nerve Palsy
Authors: Guy N. , Deffond D. , Carriere N. , Dordain G. , Clavelou P. , Gabrillargues J. 
Published: December 2014

Background:Typical presentation of spontaneous internal carotid artery (ICA) dissection is an ipsilateral pain in neck and face with Horner's syndrome and contralateral deficits. Although rare, lower cranial nerve palsy have been reported in association with an ipsilateral spontaneous ICA dissection.Case studies:We report three new cases of ICA dissection with lower cranial nerve palsies.Results:The first symtom to appear was headache in all three patients. Examination disclosed a Horner's syndrome in two cases (1 and 2), an isolated XIIth nerve palsy in two patients (case 1 and 3) and IX, X, and XIIth nerve palsies (case 2) revealing an ipsilateral carotid dissection, confirmed by MRI and angiography. In all cases, prognosis was good after a few weeks.Conclusion:These cases, analysed with those in the literature, led us to discuss two possible mechanisms: direct compression of cranial nerves by a subadventitial haematoma in the parapharyngeal space or ischemic palsy by compression of the ascending pharyngeal artery.
Listeria Spinal Cord Abscess Responsive to Trimethoprim-Sulfamethoxazole Monotherapy
Authors: Okun Michael S. , Rossi Fabian H. , Triggs William J , White Jennifer , Quisling Ronald 
Published: December 2014

Objective:To describe an alternative antibiotic regimen for the treatment of central nervous system Listeria monocytogenes infection.Background:Classical treatment of listeria infections of the brain and spinal cord has included ampicillin in combination with gentamicin and chloramphenicol. Antibiotic resistance to L. monocytogenes is extraordinarily low, and the combined risks of nephrotoxicity, ototoxicity, and agranulocytosis in an already critically ill patient make the potential use of trimethoprim-sulfamethoxazole monotherapy for coverage or treatment of listeria an important alternative.Methods:Case report.Results:A 58-year-old woman presented with a two-week history of progressive quadriplegia. Gadolinium enhanced MRI showed diffuse edema of the cervical and thoracic spine with ring-enhancing lesions. Cerebrospinal fluid and blood cultures both grew L. monocytogenes. Spinal cord biopsy of the lesion revealed inflammation with necrosis and also grew listeria. Intravenous trimethoprim-sulfamethoxazole (8 mg/kg in four divided doses) was administered for six weeks with resultant arrest of neurological symptoms and stabilization of the clinical course. Although the patient was quadraparetic she was able to be discharged to a rehabilitation facility.Conclusions:Trimethoprim-sulfamethoxazole monotherapy may be a potential alternative option for critically ill patients with central nervous system L. monocytogenes infection.