bluuebunny/crossref_metadata_2025_split huggingface dataset:
The Epileptic Encephalopathies of Infancy and Childhood
Authors: Wirrell Elaine , Farrell Kevin , Whiting Sharon 
Published: December 2014

ABSTRACT:The epileptic encephalopathies comprise a group of devastating seizure syndromes which begin in infancy and early childhood and usually result in intractable epilepsy. While some syndromes are relatively easily diagnosed early in their course, others take time to evolve, hampering an early, confident diagnosis. Epileptic encephalopathies are associated with slowing of cognitive function and evolution of severe behavioral disorders, which are often more distressing to families than the epilepsy. While an underlying etiology may explain some of this co-morbidity, many children have no identifiable etiology found for their seizures. In these “idiopathic” cases, recurrent subtle seizures, frequent epileptiform discharge and non-convulsive status epilepticus probably all play a role in deterioration of cognitive function and evolution of behavior disorders. This paper will review the most common epileptic encephalopathy syndromes, discuss the cognitive and behavioral co-morbidities and review current therapeutic options.
tPA use for Stroke in the Registry of the Canadian Stroke Network
Authors: Nadeau Janel O. , Shi Steven , Fang Jiming , Kapral Moira K. , Richards Janice A. , Silver Frank L. , Hill Michael D. ,   on behalf of the investigators for the Registry of the Canadian Stroke Network
Published: December 2014

ABSTRACT:Background:Thrombolytic therapy with recombinant tissue plasminogen activator (tPA) has been shown to be cost-effective and safe. Thrombolysis for stroke with tPA is now a standard of care in North America. However, it is only used on a small percentage of patients.Methods:The Registry of the Canadian Stroke Network was a consent-based stroke registry from 21 hospital sites across Canada. Using the thrombolysis data in phase 1 and 2 of the Registry, we sought to describe the use of stroke thrombolysis and its outcomes.Results:A total of 4107 patients were diagnosed with ischemic stroke in phase 1 and 2 of the Registry, of which 8.9% were treated with tPA. In consented tPA patients, the method of tPA administration was 85.8% IV only, 9.0% IA only, and 5.2% IV/IA combined. Patients had a median onset-to-treatment time of 167 minutes [IQR 140-188]. One quarter (25.5%) of eligible candidates (time from onset <150 minutes) were treated with tPA. Protocol violations occurred in 27.7% (67/242) of patients with 14.9% (10/67) mortality. Overall, in-hospital mortality was 11.6%. Lower Canadian Neurological Scale score and higher glucose level were predictive of mortality The symptomatic intracerebral hemorrhage (ICH) rate (phase 2 only) was 4.3%. The mean Stroke Impact Scale-16 score at six months was 73.2, approximately equivalent to a modified Rankin scale score of 2.Conclusions:At selected hospitals in Canada, thrombolysis use is higher than previously reported rates. Thrombolysis continues to be safe and effective in Canada.
Adult Onset Spinocerebellar Ataxia in a Canadian Movement Disorders Clinic
Authors: Kraft Scott , Furtado Sarah , Ranawaya Ranjit , Parboosingh Jillian , Bleoo Stacey , McElligott Karen , Bridge Peter , Spacey Sian , Das Shyamal , Suchowersky Oksana 
Published: December 2014

ABSTRACT:Background:The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. Relative frequencies vary within different ethnic groups and geographical locations.Objectives:1) To determine the frequencies of hereditary and sporadic adult onset SCAs in the Movement Disorders population; 2) to assess if the fragile X mental retardation gene 1 (FMR1) premutation is found in this population.Methods:A retrospective chart review of individuals with a diagnosis of adult onset SCA was carried out. Testing for SCA types 1, 2, 3, 6, 7, and 8, Dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich ataxia and the FMR1 expansion was performed.Results:A total of 69 patients in 60 families were identified. Twenty-one (35%) of the families displayed autosomal dominant and two (3.3%) showed autosomal recessive (AR) pattern of inheritance. A positive but undefined family history was noted in nine (15%). The disorder appeared sporadic in 26 patients (43.3%). In the AD families, the most common mutation was SCA3 (23.8%) followed by SCA2 (14.3%) and SCA6 (14.3%). The SCA1 and SCA8 were each identified in 4.8%. FA was found in a pseudodominant pedigree, and one autosomal recessive pedigree. One sporadic patient had a positive test (SCA3).Dentatorubral-pallidoluysian atrophy and FMR1 testing was negative.Conclusion:A positive family history was present in 53.3% of our adult onset SCA patients. A specific genetic diagnosis could be given in 61.9% of dominant pedigrees with SCA3 being the most common mutation, followed by SCA2 and SCA6. The yield in sporadic cases was low. The fragile X premutation was not found to be responsible for SCA.
Visual Defects Associated with Vigabatrin: A Study of Epileptic Argentine Patients
Authors: Moreno María Cecilia , Giagante Brenda , Saidon Patricia , Kochen Silvia , Benozzi Jorge , Rosenstein Ruth E. 
Published: December 2014

ABSTRACT:Objective:The aim of the present study was to assess visual alterations in a population of Argentine patients treated with the antiepileptic drug vigabatrin.Methods:Twenty patients receiving vigabatrin and 15 patients receiving carbamazepine were examined with automated perimetry using a Humphrey 120-point full screening strategy. In addition, scotopic flash electroretinograms were performed.Results:Of 20 patients treated with vigabatrin, two were unable to cooperate with testing. Of the remaining 18 patients, all but two showed at least one non-detected point inside the central 40° of the visual field of each eye. Of the 15 carbamazepine-treated patients, three were unable to perform the study. None of the remaining 12 patients showed visual field defects. Both a- and b-wave amplitudes of the scotopic electroretinogram were significantly reduced in 12 patients receiving vigabatrin.Conclusions:Visual field defects among patients on vigabatrin therapy may occur with a higher frequency than previously recognized. The Humphrey 120-points full field screening test and electroretinography are useful tools to assess the visual dysfunction associated with vigabatrin.
Cannabinoids and Dopamine Receptors' Action on Calcium Current in Rat Neurons
Authors: Vásquez C. , Navarro-Polanco R. , Hernández G. , Ruiz J. , Guerra D.G. , Baltazar L.M. , Huerta M. , Trujillo X. 
Published: December 2014

ABSTRACT:Objective:To study the effects of cannabinoid, glutamate, and dopamine agonists and antagonists on the calcium current in rat sympathetic neurons.Methods:Calcium current was recorded using the whole-cell variant of the patch-clamp technique. After expression in neuronal membranes of the cannabinoid CB1, glutamate mGluR2, or dopamine D1 receptor (by microinjection of the relevant receptor's cDNA into the neuron's nucleus) agonists' and antagonists' effects were observed.Results:Applications of agonists of the expressed receptor (0.1-10 µM) decreased the calcium current. The calcium current was increased after application of cannabinoid antagonists (AM251 and AM630); these compounds thus act as inverse agonists in this preparation. Glutamate and dopamine antagonists had no effects on the calcium current by themselves. Combined application of cannabinoids and dopamine, but not glutamate, agonists produced a decrement in the calcium current that was bigger than either of the effects seen when one agonist was applied alone.Conclusions:These results suggest that cannabinoid with dopamine receptors have an interactive inhibitory effect on the calcium current in this preparation, indicating that within the nervous system, receptor interactions may be important in the regulation of ion-channel functions.
The Role of Chemotherapy in the Treatment of Malignant Astrocytomas
Authors: Mathieu David , Fortin David 
Published: December 2014

ABSTRACT:Malignant astrocytomas are aggressive neoplasms with a dismal prognosis despite optimal treatment. Maximal resective surgery is traditionally complemented by radiation therapy. Chemotherapy is now used on patients as initial therapy when their functional status is congruent with further treatment. The classic agents used are nitrosoureas, but temozolomide has taken the front seat recently, with recent data demonstrating increased survival when this agent is used concurrently with radiation therapy in newly diagnosed glioblastoma patients. A new class of agents, refered to as biological modifiers, are increasingly used in clinical trials in an effort to affect the intrinsic biologic aberrations harboured by tumor cells. These drugs comprise differentiation agents, anti-angiogenic agents, matrix-metalloproteinase inhibitors and signal transduction inhibitors, among others. This article reviews the standard cytotoxic agents that have been used to treat malignant astrocytomas, and the different combination regimens offering promise. In addition, recent advances with biological modifiers are also discussed.
Cervico-Oculo-Acoustic Syndrome in a Male with Consanguineous Parents
Authors: Di Maio L. , Marcelli V. , Vitale C. , Menzione M. , De Giorgio A. , Briganti F. , Perretti A. , Marciano E. , Filla A. , De Michele G. 
Published: December 2014

ABSTRACT:Background:The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males.Case Report:A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and right facial palsy. A variety of cardiac, neurological and urogenital anomalies occurred in his relatives. The electro-oculographic studies showed impaired abduction and adduction of the right eye and impaired abduction of the left eye. Vergence, vertical eye movements and peripheral vestibular responses were normal. Somatosensory evoked potentials showed absence of the N13 peak and brainstem auditory evoked potentials bilateral delay of the I-III interpeak latencies.Conclusions:Consanguinity of the patient's parents, not previously reported, suggests autosomal recessive inheritance, but autosomal dominant inheritance is indicated by the family history. The pattern of the oculomotor deficit is consistent with bilateral dysplasia of the abducens nuclei with preserved internuclear neurons in the right abducens nucleus. Neurophysiological investigations revealed lower brainstem and cervical cord involvement.
Propionibacterium Acnes Infections After Cranial Neurosurgery
Authors: Kelly Michael E. , Fourney Daryl R. , Guzman Raphael , Sadanand Venkatraman , Griebel Robert W. , Sanche Stephen E. 
Published: December 2014

ABSTRACT:Background:Propionibacterium acnes (P. acnes) is a relatively avirulent organism that is part of the normal skin flora. Most patient isolates are considered contaminants but, in a small subset of patients, particularly in the post-neurosurgery setting, the organism can cause significant infections. We reviewed our experience with the occurrence and management of P. acnes infections after cranial neurosurgical procedures over a five-year period.Methods:Patients with positive cultures for P. acnes between 1996 and 2001 were identified by review of the Saskatoon Health Region microbiology laboratory database. Of the 141 positive cultures, a review of hospital records identified six patients with P. acnes infections after neurosurgical procedures. A review of the literature related to P. acnes associated CNS infections was conducted.Results:All patients had undergone a craniotomy or burrhole placement, and one patient had received prior radiotherapy. There were no P. acnes-related ventriculoperitoneal shunt infections. All patients presented with scalp swelling and three had purulent discharge. Symptoms occurred more than two months after the initial surgery in five of six patients, while one patient developed symptoms three years post-operatively. Management for all patients included removal of the craniotomy flap and treatment with parenteral antibiotics, followed in most cases by oral antibiotics. A good response without relapse of infection was seen in five patients; one patient had recurrent infection after cranioplasty.Conclusion:P. acnes is a rare but important cause of infection after craniotomy. Wound debridement, removal of the bone flap and adequate antibiotic coverage result in cure in the majority of patients.
Bilateral Agenesis of the Hippocampal Dentate Gyrus in a Neurologically Normal Adult
Authors: Clark Arthur W. , Sarnat Harvey B. 
Published: December 2014

ABSTRACT:Background:Ontogenic development of granule cells in the hippocampal dentate gyrus is influenced by genes including WNT3, EMX2, NEUROD, and LEF1. Dentate granule cells continue to be generated from stem cell precursors postnatally and during adult life, and are implicated in normal and abnormal neurological function. Developmental privation of dentate granule cells is rare and essentially always occurs in the context of other neurodevelopmental abnormalities. We have found no previous reports of severe, selective agenesis of dentate granule cells in humans.Methods:A gross and microscopic examination of the brain included appropriate histochemical and immunohistochemical preparations and examination of the hippocampal formation at multiple levels bilaterally.Results:This neurologically normal 82-year-old man was found to have bilateral agenesis of the hippocampal dentate gyrus, no identifiable dentate granule cells, and moderate disorganization of the pyramidal cell layer of Ammon's horn. We found no neurodevelopmental abnormalities outside the hippocampus.Conclusion:The hippocampal architectural alterations in this patient are similar to those associated with a murine Lef1 mutation, but our human case does not have the other congenital deficits reported in the Lef1-null mouse. Bilateral agenesis of the hippocampal dentate gyrus, and apparent failure of regeneration of dentate granule cells from stem cells in adult life, may occur without overt clinical neurological deficits.
Whiplash and Concussion: Similar Acute Changes in Middle-Latency SEPs
Authors: Zumsteg Dominik , Wennberg Richard , Gütling Eva , Hess Klaus 
Published: December 2014

Objective:Middle-latency somatosensory evoked potentials (SEPs) following median nerve stimulation can provide a sensitive measure of cortical function. We sought to determine whether the mechanical forces of whiplash injury or concussion alter normal processing of middle-latency SEPs.Methods:In a cross-sectional pilot study 20 subjects with whiplash were investigated (50% between 0.5-2 months and 50% between 6-41 months post injury) and compared to 83 healthy subjects using a standard middle-latency SEP procedure. In a subsequent prospective study subjects with either acute whiplash (n=13) or Grade 3 concussion (n=16) were investigated within 48 hours and again three months post injury.Results:In the pilot study the middle-latency SEP component N60 was significantly increased in the ten subjects investigated within two months after whiplash. In contrast, the ten subjects examined more than six months after injury showed normal latencies. In the prospective study N60 latencies were increased after whiplash and concussion when tested within 48 hours of injury. At three months, latencies were improved though still significantly different from controls post whiplash and concussion.Conclusion:Both whiplash injury and concussion alter processing of the middle-latency SEP component N60 in the acute post traumatic period. The acute changes appear to normalize between three-six months post injury. The SEP similarities suggest that the overlapping clinical symptomatology post whiplash and concussion may reflect a similar underlying mechanism of rotational mild traumatic brain injury.
Effects of High Stimulus Frequencies on SEPs of Patients with Neuro-Behcet's Disease
Authors: Turker Hande , Cengiz Nilgun , Akar Handan , Onar Musa K. , Us Onder 
Published: December 2014

Background:Behcet's disease is a multisystemic vascular inflammatory disorder of unknown origin. It is relatively rare and central nervous system involvement is seen in 5% of affected individuals. Somatosensory evoked potentials (SEPs) can provide information that shows the presence of clinically unsuspected lesions in the central nervous system of these patients. However, the effects of changing the stimulus frequencies on latencies of SEP potentials and central conduction time (CCT) in patients with neuro-Behcet's disease (NB) have not been studied yet. In this study, our aim was to reveal these effects to investigate whether the change of stimulus frequencies could be of convenient use in obtaining more accurate CCT estimations in SEP studies of these patients.Methods:We performed median nerve SEPs of 14 patients with NB and 15 healthy volunteers. We changed the stimulus frequency: 2 Hz, 4Hz, 6Hz and 9Hz in successive recordings and statistically compared the changes on SEP potentials and peak and onset CCT in the neuro-Behcet (NB) group and the normal group.Results:Our results indicated that the onset CCT values of the NB group were higher than the normal group at 4Hz and 9Hz stimulations. However, the comparison of peak CCT in the NB group and the normal group did not show any statistically meaningful differences at all stimulation frequencies.Conclusion:Onset CCT has not been measured before in former SEP studies of patients with NB. We highly recommend measuring onset CCT at higher stimulation frequencies in order to reveal central conduction time pathologies in these patients.
Purification of the NF2 Tumor Suppressor Protein from Human Erythrocytes
Authors: Jindal Hitesh K. , Yoshinaga Kazumi , Seo Pil-Soo , Lutchman Mohini , Dion Patrick A. , Rouleau Guy A. , Hanada Toshihiko , Chishti Athar H. 
Published: December 2014

Background:Neurofibromatosis type 2 (NF2) is an autosomal dominant disease predisposing individuals to the risk of developing tumors of cranial and spinal nerves. The NF2 tumor suppressor protein, known as Merlin/Schwanomin, is a member of the protein 4.1 superfamily that function as links between the cytoskeleton and the plasma membrane.Methods:Upon selective extraction of membrane-associated proteins from erythrocyte plasma membrane (ghosts) using low ionic strength solution, the bulk of NF2 protein remains associated with the spectrin-actin depleted inside-out-vesicles. Western blot analysis showed a ~70 kDa polypeptide in the erythrocyte plasma membrane. Furthermore, quantitative removal of NF2 protein from the inside-out-vesicles was achieved using 1.0 M potassium iodide, a treatment known to remove tightly-bound peripheral membrane proteins.Results:These results suggest a novel mode of NF2 protein association with the erythrocyte membrane that is distinct from the known membrane interactions of protein 4.1. Based on these biochemical properties, several purification strategies were devised to isolate native NF2 protein from human erythrocyte ghosts. Using purified and recombinant NF2 protein as internal standards, we quantified approximately ~41-65,000 molecules of NF2 protein per erythrocyte.Conclusion:We provide evidence for the presence of NF2 protein in the human erythrocyte membrane. The identification of NF2 protein in the human erythrocyte membrane will make it feasible to discover novel interactions of NF2 protein utilizing powerful techniques of erythrocyte biochemistry and genetics in mammalian cells.
A Safe and Effective Method for Treatment of Chronic Subdural Haematoma
Authors: Gurelik Mustafa , Aslan Adem , Gurelik Bilge , Ozum Unal , Karadag Özen , Kars H. Zafer 
Published: December 2014

Objective:Burr-hole irrigation and burr-hole drainage without irrigation are the most popular methods for treatment of chronic subdural haematoma. It is not well known if irrigation is necessary or which method has a higher recurrence rate. We compared the recurrence rates of those two methods.Materials and Methods:Forty-two patients were treated by burr-hole irrigation (irrigation group), whereas 38 patients were treated by burr-hole drainage (drainage group). Recurrence rate and its relation with sex, age, haematoma localization and aetiology were investigated in both groups.Results:There was no significant difference between recurrence rates of the two groups. There was also no correlation between recurrence rate and age, sex, haematoma localization, or aetiology.Conclusions:There was no significant difference between recurrence rates of the two groups. Since the burr-hole drainage method is simpler to carry out, its use may be preferable.
Prevalence of Multiple Sclerosis in First Nations People of Alberta
Authors: Svenson Lawrence W. , Warren Sharon , Warren Kenneth G. , Metz Luanne M. , Patten Scott B. , Schopflocher Donald P. 
Published: December 2014

Background:Multiple Sclerosis (MS) is reported to be uncommon among North American aboriginals despite frequent intermarriage with people of European ancestry, but few population-based studies have been conducted. The purpose of this study was to determine the prevalence of MS among First Nations aboriginal people in Alberta, Canada compared to the general population.Methods:All hospital in-patient and physician fee-for-service records between 1994 and 2002 where a diagnosis of MS was mentioned were extracted from government health databases in the province of Alberta. First Nations people can be identified since the federal government (Health Canada) pays health care insurance premiums on their behalf. Multiple Sclerosis prevalence per 100,000 population for both First Nations people and the general population of Alberta were calculated for each year during this time span.Results:Among First Nations in Alberta, MS prevalence was 56.3 per 100,000 in 1994 and 99.9 per 100,000 in 2002, an increase of 43.6%. In 2002 prevalence was 158.1 and 38.0 for females and males respectively, a female to male ratio of 4.2:1. Multiple Sclerosis prevalence among the general population of Alberta was 262.6 per 100,000 in 1994 and 335.0 per 100,000 in 2002, an increase of 21.6%. In 2002 prevalence was 481.5 and 187.5 for females and males respectively, a female to male ratio of 2.6:1. Peak prevalence for both First Nations and general population females in 2002 was age 50-59, also 50-59 for both First Nations and general population males.Conclusion:While MS prevalence in First Nations people is lower than in the general population of Alberta, it is not rare by worldwide standards.