bluuebunny/crossref_metadata_2025_split huggingface dataset:
Electrophysiological Evaluation of Peripheral and Autonomic Involvement in Leprosy
Authors: Soysal Aysun , Atay Turan , Ozu Tacettin , Arpaci Baki 
Published: December 2014

Objective:Motor and sensory nerve conductions, F responses, sympathetic skin responses and R-R interval variations (RRIV) were studied to determine the type of peripheral neuropathy among patients with leprosy.Methods:Twenty-nine consecutive patients with leprosy (25 male, 4 female) hospitalized in the “Istanbul Leprosy Hospital'' between January - December, 1999 were included in this study. Ten patients had borderline lepromatous leprosy, and 19 had lepromatous leprosy. None of the patients studied had the tuberculoid form. The mean age was 55±12 years. The control group consisted of 30 (26 male, 4 female) healthy volunteers (mean age: 58.1±7.8 years). All subjects included in the study underwent neurological examination and electrophysiological evaluation. Standard procedures were performed for evaluating sensory and motor conduction studies. Motor studies were carried out on both left and right median, ulnar, tibial and common peroneal nerves while median, ulnar, sural and superficial peroneal nerves were examined for sensory studies. Sympathetic skin response recordings on both hands and RRIV recordings on precordial region were done in order to evaluate the autonomic involvement.Results:The lower extremity was found to be more severely affected than the upper, and sensory impairment predominated over motor. Of 58 upper limbs examined, no sympathetic skin responses was recorded in 46 (79.3%). Compared with the controls, the RRIVs of the leprosy patients were found to be reduced during both resting and deep forced hyperventilation.Conclusion:Our results indicate that leprosy causes a predominantly axonal polyneuropathy that is more severe in the lower extremities. Sensory nerve damage is accompanied by autonomic involvement.
Malaysian Siblings with Friedreich Ataxia and Chorea: A Novel Deletion in the Frataxin Gene
Authors: Spacey Siân D. , Szczygielski Blazej I. , Young Sean P. , Hukin Juliette , Selby Kathy , Snutch Terrance P. 
Published: December 2014

Background:Friedrich ataxia (FRDA1) is most often the result of a homozygous GAA repeat expansion in the first intron of the frataxin gene (FRDA gene). This condition is seen in individuals of European, North African, Middle Eastern and Indian descent and has not been reported in Southeast Asian populations. Approximately 4% of FRDA1 patients are compound heterozygotes. These patients have a GAA expansion on one allele and a point mutation on the other and have been reported to have an atypical phenotype.Objective:To describe a novel dinucleotide deletion in the FRDA gene in two Malaysian siblings with FRDA1.Setting:Tertiary referral university hospital setting. Patients andMethods:A previously healthy 10-year-old Malaysian boy, presented with fever, lethargy, headaches, dysarthria, dysphagia, vertigo and ataxia which developed over a one week period. His neurological exam revealed evidence of dysarthria and ataxia, mild generalized weakness and choreoform movements of the tongue and hands. His reflexes were absent and Babinski sign was present bilaterally. A nine-year-old sister was found to have mild ataxia but was otherwise neurologically intact.Results:Molecular genetic studies demonstrated that both siblings were compound heterozygotes with a GAA expansion on one allele and a novel dinucleotide deletion on the other allele.Conclusion:We describe a novel dinucleotide deletion in the first exon of the FRDA gene in two siblings with FRDA1. Additionally this is the first report of FRDA1 occurring in a family of southeast Asian descent, it demonstrates intrafamilial phenotypic variability, and confirms that atypical phenotypes are associated with compound heterozygosity.
Modafinil in Endozepine Stupor. A Case Report
Authors: Scott Sharon , Ahmed Iftekhar 
Published: December 2014

Background:Endozepine-4 stupor is a rare disorder. It presents with recurrent episodes of stupor and coma. Endozepine-4 levels are elevated during an attack with electroencephalogram showing fast activity during the ictal phase. There is no specific treatment and various drugs have been tried without long-term benefit.Method:We used the vigilance promoting drug modafinil to prevent such attacks in a case presented with endozepine stupor.Results:The vigilance promoting drug modafinil prevented recurrent episodes of stupor and coma in this patient at a dose of 200 mg/day for a period of six months. Upon withdrawal of the drug, the patient experienced recurrent episodes and on reinstitution of modafinil she has remained asymptomatic in the following one year.
Standardized Finger-Nose Test Validity for Coordination Assessment in an Ataxic Disorder
Authors: Gagnon Cynthia , Mathieu Jean , Desrosiers Johanne 
Published: December 2014

Objectives:Evaluation of coordination with the Finger-Nose Test is an essential part of the neurological examination. This study explored the convergent and discriminant construct validity of the Standardized Finger-Nose Test (SFNT) in a neuromuscular disorder with ataxic features.Method:A cross-sectional study was carried out with 24 participants with recessive spastic ataxia of Charlevoix-Saguenay. Convergent construct validity was tested by correlating the SFNTwith other upper extremity function tests, a functional independence measure and social participation. Upper extremity function tests included gross and fine dexterity (Box and Block Test and Purdue Pegboard), upper extremity strength (dynamometry) and global upper extremity performance (TEMPA). The Functional Independence Measure (FIM) and the Assessment of Life Habits scale (LIFE-H) measured functional independence and social participation respectively. Discriminant construct validity was explored by comparing performance on the SFNT between two age groups (< 40 years and ³ 40 years).Results:Convergent validity of the SFNT was demonstrated by moderate to strong correlations with gross and fine finger dexterity (r = 0.82-0.84), global upper extremity performance (0.74-0.79), functional independence (r = 0.74) and social participation (r = 0.78). Upper extremity coordination of the older group was significantly lower than in the younger group, suggesting the ability of the SFNT to discriminate between different levels of function.Conclusion:This study demonstrated the convergent and discriminant construct validity of the SFNT in a neuromuscular disorder with ataxic features.
Localization of Nestin in Amygdaloid Kindled Rat: An Immunoelectron Microscopic Study
Authors: Nakagawa Toshitaka , Miyamoto Osamu , Janjua Najma A. , Auer Roland N. , Nagao Seigo , Itano Toshifumi 
Published: December 2014

Background:Nestin is a class VI intermediate filament protein, expressed during early embryonic development in mammals. Postnatally, nestin and its mRNA are down-regulated and gradually disappear. Recently, nestin expression has been detected in the adult nervous system, and it has been suggested that this protein may be related to neurogenesis, although, its role in the mechanism of neurogenesis is not known.Methods:The present study examined the localization of nestin in CNS tissue of the amygdaloid kindled rat by light and electron microscopy.Results:Kindled animals showed nestin expression mainly in the piriform cortex and the perirhinal cortex. By light microscopy, nestin was shown to be expressed in astrocytes, neurons, and endothelial cells. Electron microscopy demonstrated nestin expression in endothelial cells, astrocytic perivascular end feet, the rare pericyte, neurons and oligodendrocytes.Conclusion:We conclude that epilepsy causes widespread nestin expression in many cell types in the CNS, including non-neural cells.
Cowden Disease with Lhermitte-Duclos Disease: Case Report
Authors: Prabhu Sujit S. , Aldape Kenneth D. , Bruner Janet M. , Weinberg Jeffrey S. , Weinberg Jeffrey S. 
Published: December 2014

Background:We report a case and review the recent literature describing 36 patients with both Lhermitte-Duclos disease (LDD) and Cowden disease (CD). Lhermitte-Duclos disease, or dysplastic gangliocytoma, is a benign hamartomatous condition involving the cerebellum. The presenting symptoms are usually headaches, gait ataxia, and symptoms of lower cranial nerve involvement. Cowden disease is a rare autosomal dominant disease that usually presents with multiple mucocutaneous lesions. Patients with CD are prone to multiple systemic malignancies, the most common of which is breast cancer. Recent studies have demonstrated an association between LDD and CD.Methods:A 44-year-old woman with a previous history of breast cancer, multiple benign skin lesions, Hashimoto's thyroiditis, and chronic headaches presented with exacerbation of her headaches during the previous year. Magnetic resonance imaging of the brain revealed a right cerebellar nonenhancing mass and an acquired tonsillar herniation.Results:The patient underwent resection of the right cerebellar mass, posterior fossa decompression, C1 and C2 laminectomies, and a duraplasty. Pathologic examination confirmed LDD. The patient recovered well after surgery, with immediate improvement of her headaches.Conclusion:The association between LDD and CD has been under-recognized and under-reported. Recognition of this association has direct clinical relevance, because diligent monitoring of individuals with LDD and CD may lead to the early detection of systemic malignancies.
Fourth Ventricular Neurocytoma: Case Report and Review of the Literature
Authors: Cook Douglas J. , Christie Sean D. , Macaulay Robert J.B. , Rheaume Dorianne E. , Holness Renn O. 
Published: December 2014

Objectives:Central neurocytoma is a tumour that typically occurs in young adults in close association with the lateral and third ventricles of the cerebrum.Methods:We report the unusual case of a central neurocytoma that developed in the fourth ventricle of a 59-year-old woman and metastasized to the upper cervical canal. Subtotal excision and adjuvant radiotherapy were used to treat the lesion. Microscopic evaluation, discussion of the pathologic differential diagnosis and theories of the histogenesis of the tumour are presented. Results andConclusion:Fourth ventricular neurocytoma is rare and has only been reported twice previously. It appears most likely that this tumour arises from subependymal progenitor cell lines.
Progress in Clinical Neurosciences: Cognitive Markers of Progression in Alzheimer's Disease
Authors: Behl Pearl , Stefurak Taresa L. , Black Sandra E. 
Published: December 2014

ABSTRACT:The objective of this review is to summarize the literature on Alzheimer's disease progression utilizing cognitive batteries to track change over time. Studies published in English and obtained through PubMed searches (1983-2004) were included i) if they had a longitudinal design and followed probable Alzheimer's patients diagnosed by National Institute of Neurological and Communicative Disorders and Stroke/Alzheimer's Disease and Related Disorders Association or Diagnostic and Statistical Manual III/IV criteria, and ii) if the techniques used for serial assessment were well-established in terms of validity and reliability. Longitudinal studies examining Alzheimer's disease progression report highly variable annual rates of change in decline rate. It remains unclear if this reflects disease subgroups or stage-related rate of decline. In conclusion a combination of stage-appropriate cognitive tests such as the Mattis Dementia Rating Scale and the Severe Impairment Battery, along with appropriate statistical methods to account for individual variability in decline rates, can capture the progression of Alzheimer disease and may be useful in further investigation.
HIV-Related Neurological Syndromes Reduce Health-Related Quality of Life
Authors: Pandya Rupang , Krentz Hartmut B. , Gill M. John , Power Christopher , Gill M. John 
Published: December 2014

ABSTRACT:Background:Human immunodeficiency virus (HIV) infection frequently results in neurological complications but the impact of different neurological syndromes on patients' quality of life remains unknown.Methods:We investigated health-related quality of life (HRQoL) parameters among HIV/Acquired Immune Deficiency Syndrome (AIDS) patients with and without neurological disease, including 11 dimensions of HRQoL within the Medical Outcomes Short-form Health Survey-HIV.Results:Comparisons of sociodemographic and systemic clinical variables did not differ between HIV/AIDS patients with (n=94) and without (n=75) neurological disease. However, patients with neurological diseases exhibited significantly lower HRQoL scores compared to matched controls, which was most evident among HIV/AIDS patients with cognitive impairment and sensory neuropathy. Prospective analysis revealed diminishing HRQoL scores prior to neurological diagnosis followed by a progressive and sustained improvement in HRQoL scores after intervention over a 96-week period.Conclusions:These studies indicate that while HIV-related neurological diseases are associated with reduced HRQoL scores, enhanced neurological care has a positive impact on HIV/AIDS patients' overall well-being.
Resolution-Dependent Estimates of Multiple Sclerosis Lesion Loads
Authors: Erskine M.K. , Cook L.L. , Riddle K.E. , Mitchell J.R. , Karlik S.J. 
Published: December 2014

ABSTRACT:Background:Changes in brain lesion loads assessed with magnetic resonance imaging obtained at 1.5 Telsa (T) are used as a measure of disease evolution in natural history studies and treatment trials of multiple sclerosis.Methods:A comparison was made between the total lesion volume and individual lesions observed on 1.5 T images and on high-resolution 4 T images. Lesions were quantified using a computer-assisted segmentation tool.Results:There was a 46% increase in the total number of lesions detected with 4 T versus 1.5 T imaging (p<0.005). The 4 T also showed a 60% increase in total lesion volume when compared with the 1.5 T (p<0.005). In several instances, the 1.5 T scans showed individual lesions that coalesced into larger areas of abnormality in the 4 T scans. The relationship between individual lesion volumes was linear (slope 1.231) showing that the lesion volume observed at 4 T increased with the size of the lesion detected at 1.5 T. The 4 T voxels were less than one quarter the size of those used at 1.5 T and there were no consistent differences between their signal-to-noise ratios.Conclusions:The increase in signal strength that accompanied the increase in field strength compensated for the loss in signal amplitude produced by the use of smaller voxels. This enabled the acquisition of images with improved resolution, resulting in increased lesion detection at 4 T and larger lesion volumes.
Inspiratory Muscle Training and the Perception of Dyspnea in Parkinson's Disease
Authors: Inzelberg Rivka , Peleg Nana , Nisipeanu Puiu , Magadle Rasmi , Carasso Ralph L. , Weiner Paltiel 
Published: December 2014

ABSTRACT:Background:Pulmonary and respiratory muscle function impairment are common in patients with Parkinson's disease (PD). Inspiratory muscle training may improve strength, dyspnea and functional capacity in healthy subjects and in those with chronic obstructive pulmonary disease. This study investigated the effect of specific inspiratory muscle training (SIMT) on pulmonary functions, inspiratory muscle performance, dyspnea and quality of life, in patients with PD.Patients and Methods:Twenty patients with PD (stage II and III Hoehn and Yahr scale) were recruited for the study and were divided into two groups: a) ten patients who received SIMT and b) ten patients who received sham training, for three months. Pulmonary functions, the respiratory muscle strength and endurance, the perception of dyspnea (POD) and the quality of life were studied before and within one week after the training period. All subjects trained daily, six times a week, each session consisting of 1/2 hour, for 12 weeks.Results:Following the training period, there was a significant improvement, in the training group but not in the control group, in the following parameters: inspiratory muscle strength, (PImax, increased from 62.0±8.2 to 78.0±7.5 cm of H2O (p<0.05), inspiratory muscle endurance (increased from 20.0±2.8 to 29.0±3.0 cm of H2O (p<0.05), and the POD (decreased from 17.9±3.2 to 14.0±2.4 units (p<0.05). There was a close correlation between the increase in the inspiratory muscle performance and the decrease in the POD.Conclusions:The inspiratory muscle performance may be improved by SIMT in patients with PD. This improvement is associated with a significant decrease in their POD.
Neurofibromatosis Type 1 in a Pediatric Population: Ste-Justine's Experience
Authors: Boulanger J.M. , Larbrisseau A. 
Published: December 2014

ABSTRACT:Background:To date, few pediatric series of neurofibromatosis type 1 (NF-1) have been described in the literature even though it is the most frequently encountered phakomatosis.Methods:We reviewed 987 charts of pediatric patients with a presumptive diagnosis of NF-1 who were evaluated at Ste-Justine hospital from January 1, 1991 to July 31, 2002. Patients who presented with two or more cardinal criteria were diagnosed with NF-1. Clinical and laboratory data were retrospectively collected, including: demographics, neuroimaging and presence or absence of associated symptoms or signs of NF-1.Results:A total of 279 patients were diagnosed with NF-1. The mean age at diagnosis was 3.4 years. Ninety-nine percent of the patients had café au lait spots and 47% had a first degree relative with NF-1. Almost 60 percent (59.6%) of those seen by an ophthalmologist had Lisch nodules. Optic glioma was found in in 14.7%, cutaneous neurofibromas in 38.4%, plexiform neurofibromas in 24.7%, neurofibrosarcoma in 1.8%, learning disabilities in 39%, attention deficit disorder in 40.5%, osseous dysplasias in 7.2%, pseudoarthrosis in 3.6%, precocious puberty in 3.2% and short stature in 17.9%. Magnetic resonance, when performed, showed hyperintense T2 lesions in 87.1% of cases. The mean period of follow-up was 7.4 years.Conclusion:Neurofibromatosis type 1 is a multisystemic disorder associated with increased risk of malignancy. It can be diagnosed at a very young age and clinical follow-up is advised. To our knowledge, this is the largest single center study of NF-1 in a pediatric population.
Progress in Clinical Neurosciences: A Forum on the Early Management of Parkinson's Disease
Authors: Lang Anthony E. , Miyasaki Janis , Olanow C. Warren , Stoessl A. Jon , Suchowersky Oksana 
Published: December 2014

ABSTRACT:There are numerous concerns related to treatment choices involving early dopaminergic therapy in Parkinson's disease. These include the effect on the underlying progression of the neurodegenerative process as well as the development of motor complications such as fluctuations and dyskinesias. A number of recent basic and clinical studies have provided new insights but have also added confusion and controversy. This report summarizes presentations and discussion dealing with these issues from a one-day symposium involving Canadian Movement Disorders neurologists.
Neurological Complications of Kernicterus
Authors: AlOtaibi Suad F. , Blaser Susan , MacGregor Daune L. 
Published: December 2014

ABSTRACT:Objective and Background:Prevention of bilirubin encephalopathy relies on the detection of newborns who are at risk of developing serious hyperbilirubinemia. The objective of this study was to reassess the clinical syndrome of kernicterus as neurodiagnostic studies have become more readily available and can be used to evaluate these infants.Methods:The study population was neonates born at term or near term admitted to The Hospital for Sick Children in Toronto, Ontario, Canada, between January 1990 and May 2000. During the study period, there were 9776 admissions (average number of admissions per year – 888 infants). The inclusion criteria were that patients had total serum bilirubin levels of > 400μmol/L at the time of diagnosis and no evidence of hypoxic ischemic encephalopathy. Records were reviewed to establish neurodevelopment outcomes.Results:Twelve neonates (nine males) were identified. Bilirubin levels at the time of diagnosis ranged from 405 to 825μmol/L. Causes of these elevated levels included glucose-6-phosphate dehydrogenase deficiency (seven patients), dehydration (three patients), sepsis (one patient), and was undetermined in one patient. Abnormal visual evoked potentials were found in three of nine patients and abnormal brainstem auditory evoked potentials in seven of ten patients. Abnormal electroencephalograms were documented in five patients studied. Brain magnetic resonance imaging results were abnormal in three of four patients.Conclusions:Magnetic resonance imaging typically showed an increased signal in the posteromedial aspect of the globus pallidus and was, therefore, useful in the assessment of the structural changes of chronic bilirubin encephalopathy after kernicterus.
Anomalous Internal Carotid Anastomosis to Contralateral Anterior Cerebral Artery
Authors: Murai Yasuo , Ikeda Yukio , Sato Hidetaka , Yamamoto Yasuhiro , Teramoto Akira 
Published: December 2014

ABSTRACT:Background:Many anomalies and variants in vascular anatomy have been reported in relation to the anterior cerebral artery (ACA). Patients andPatients and Methods:We encountered an apparently novel anomaly in a 30-year-old man admitted for disturbance of consciousness following a traffic accident. Computed tomography revealed an acute subdural hematoma and subarachnoid hemorrhage.Results and conclusions:No vascular abnormalities related to the hemorrhage were detected by conventional angiography, so we concluded that the bleeding was of traumatic origin. Anomalous origin of the ACA was disclosed incidentally, with both A1 segments arising from the right internal carotid artery; no normal A1 segment of the left ACA was visualized. We discuss possible bases for this anomalous origin.
Nephrotic Syndrome in a Multiple Sclerosis Patient Treated with Interferon β1a
Authors: Auty Anthony , Saleh Abdulkarim 
Published: December 2014

ABSTRACT:Background:Interferon β has become standard therapy for reducing relapse frequency in relapsing/remitting Multiple Sclerosis (RRMS). Several different preparations are available including interferon β1a (Avonex, Rebif) and interferon β1b (Betaferon/Betaseron). For the most part these preparations have been considered safe. Recently there have been concerns relating to liver1 and now kidney toxicity.Case Report:We present a case of a 28-yr old male who developed a severe case of nephrotic syndrome while being treated for relapsing/remitting Multiple Sclerosis (RRMS) with weekly injections of interferon β1a.Subsequent course:The nephrosis resolved almost completely once the interferon was stopped and after immunosuppressive treatment. At its peak the daily protein loss was 35.82 g. Kidney biopsy demonstrated membranous glomerulonephritis.Discussion:Two other case reports of nephrotic syndrome have been reported in the literature. This latest (third) report suggests that the safety profile should be reexamined and at least raises the question of potential renal toxicity of interferons in MS.