bluuebunny/crossref_metadata_2025_split huggingface dataset:
Central Nervous System Vasculitis in Rheumatoid Arthritis
Authors: Watson Peter , Fekete John , Deck John 
Published: July 2016

SUMMARY:The history of a patient with rheumatoid arthritis and necrotizing vasculitis affecting only the central nervous system is reported. Clinical and pathological involvement by this process was present in both cerebral hemispheres, the pons and spinal cord. Review of the literature revealed that cerebral vasculitis in rheumatoid arthritis has been reported rarely and spinal cord vasculitis not at all.
Electroencephalographic Findings in Friedreich's Ataxia
Authors: Remillard G. , Andermann F. , Blitzer L. , Andermann E. 
Published: July 2016

SUMMARY:Electroencephalographic tracings of 50 patients who presented the classical features of Friedreich’s ataxia were reviewed. Mild nonspecific abnormalities were found in 33% and consisted of:a) Abnormal slow or irregular background rhythms in 15 patients (30%).b) Intermittent paroxysmal rhythms, considered to be projected from diencephalic or upper midbrain structures, in 4 patients (8%).c) Unilaterally absent driving responses in 2 affected siblings (4%).There was no response to intermittent photic stimulation in 60% of the patients. This finding is not considered a definite abnormality, and its significance remains unclear.Four patients (8%) had epileptic seizures, but of these only two had interictal epileptic abnormalities.There was no correlation between the duration and severity of the disease and the presence of electroencephalographic abnormalities.Friedreich’s ataxia is mainly a spinal disorder. Involvement of supraspinal and in particular brain stem or diencephalic structures may be more extensive in those patients who show electrographic abnormalities. This would require confirmation with comparative data based on pathological observations.Impaired function of brain stem inhibitory mechanism may be responsible for the slightly raised incidence of seizures in patients with Friedreich’s ataxia and other cerebellar degenerations.
Myophosphorylase Deficiency (McArdle's Disease): Report of a Family
Authors: Mahmud M. Zafar , Howell R. Rodney , Stevenson Roger E. , Gilroy John 
Published: July 2016

SUMMARY:The clinical and biochemical findings are presented of two brothers suffering from McArdle's Disease (Myophosphorylase Deficiency). Tissue enzyme estimations and lactate levels were done in affected and non-affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.
Direct Leukocyte Migration Inhibition In Multiple Sclerosis — A Possible Assessment of Activity
Authors: Day M.P. , Day J.H. , Mann P.L. 
Published: July 2016

SUMMARY:Twenty-four patients with multiple sclerosis were evaluated and classified according to their clinical state. Specific migration inhibition studies were carried out on blood samples
from each using myelin basic protein, an acid soluble protein fraction isolated from normal human CNS white matter, and multiple sclerosis myelin basic protein isolated from patients who
had the disease, as the antigenic material. This test system employed selected media. Results were compared with those of normal controls and patients with other neurological disease states.
Antigen concentration of 500 μ glml in serum free medium combined to produce the greatest inhibiting effect on leukocytes in patients with apparent multiple sclerosis and differentiated these patients from those in the other groups tested.Leukocytes in patients who had probable multiple sclerosis with partial impairment, signifying possible current activity of the disease, were especially inhibited as compared to the leukocytes from other groups tested against myelin antigen. Cerebrospinal fluid from affected patients when used as a media enhanced the test.This study suggests that migration inhibition of peripheral leukocytes using myelin protein may be useful in the diagnosis of patients with multiple sclerosis. There is additional evidence that the degree of leukocyte migration inhibition may reflect activity of the disease with
its consequent implications on treatment and prognosis.
Studies of Human Papovavirus Tumor Antigen in Experimental and Human Cerebral Neoplasms
Authors: Becker L.E. , Narayan O. , Johnson R.T. 
Published: July 2016

SUMMARY:Three types of papovaviruses (JC, BK, and SV40) have been isolated from man. All three are oncogenic in hamsters, cause frequent infection of man, and share a common T antigen. Augmentation of the expression of T antigen by in vitro cultivation of SV40-induced tumors of hamsters suggested that growing human brain tumors in vitro might provide an effective screening technique for the SV40 virus. In a series of human brain tumors examined in cryostat sections and in tissue culture, T antigen could not be demonstrated, suggesting that by this immunofluorescent technique SV40 was not implicated in the etiology of these tumors.
Ecogenetics of Parkinson's Disease: Prevalence and Environmental Aspects in Rural Areas
Authors: Barbeau André , Roy Madeleine , Bernier Gilles , Campanella Giuseppe , Paris Suzanne 
Published: July 2016

Abstract:We make use of the unique combination of a homogeneous genetic and racial origin in the rural population of Quebec and the facilities of free and universal access to medical care, to study the distribution of the prevalence of Parkinson's disease in the 9 rural hydrographic regions of the Province. Through 3 different methods of ascertainment, confirmed by two control probes, we demonstrate that the prevalence of Parkinson's disease is of uneven distribution within rural areas. We further investigated the characteristics of the regions of high prevalence. These regions which are predominantly agricultural and areas of intensive market gardening were also the areas with the highest use of pesticides.
Adult Onset Systemic Carnitine Deficiency: Favorable Response to L-Carnitine Supplementation
Authors: Levitan M.D. , Murphy J.T. , Sherwood W.G. , Deck J. , Sawa G.M.J. 
Published: July 2016

Abstract:We report the case of a patient who at age 39 first developed an episode of muscle weakness and transient ketoacidosis with biopsy proven fatty infiltration of the liver. Over the next several years, myopathy ensued; biopsy revealed extensive deposition of lipid globules in type 1 muscle fibres. Further investigations established the diagnosis of systemic carnitine deficiency (SCD) with skeletal muscle, hepatic, and cardiac involvement. The patient has benefited from L-carnitine supplementation. Our case represents an unusually late onset of SCD and highlights the necessity, when appropriate, of a high index of suspicion of this rare but treatable disorder.
Carotid Endarterectomy Without Indwelling Shunts and Intraoperative Electrophysiologic Monitoring
Authors: Reddy Kesava , West Michael , Anderson Brian 
Published: July 2016

Abstract:Although carotid endarterectomy is a common surgical procedure in North America, controversies exist regarding the type of anesthesia, the use of indwelling shunts and the need for intraoperative cerebral monitoring. We present a prospective study of 100 carotid endarterectomies performed over a three year period by a single surgeon without the use of indwelling shunts, patch grafts, or EEG monitoring. The combined stroke and mortality rate was 1%. Our results confirm those of other authors; that indwelling shunts and EEG monitoring are not absolutely essential for a satisfactory outcome in carotid endarterectomies.
Bilateral Homonymous Hemianopia with Sparing of Central Vision After Subdural Hematoma
Authors: Soza Marco , Tagle Patricio , Kirkham Trevor , Court Jaime 
Published: July 2016

Abstract:A patient with bilateral homonymous hemianopia with preservation of the central vision, spatial disorientation and memory deficits secondary to bilateral occipital and mesial temporal infarctions, is presented. The cerebral damage followed a subdural hematoma with tentorial herniation and compression of both posterior cerebral arteries.
Interhemispheric Subdural Hematoma
Authors: Russell Neville A. , Carpio-O'Donovan Raquel del , Mallya K.B. , Benoit Brien G. , Belanger Gary 
Published: July 2016

Abstract:Although relatively uncommon, interhemispheric subdural hematoma (ISDH) occurs more frequently than was suspected before the advent of computerized tomographic (CT) scanning. When its mass is sufficiently large to compress the medial cerebral hemisphere, specific focal neurological abnormalities may occur. These include weakness of the contralateral leg, or contralateral hemiparesis with the leg being weaker than the arm. On the unenhanced CT scan ISDH is seen as a crescent shaped, midline hyperdensity. Treatment is dictated by the clinical course. Evacuation of the hematoma by parasagittal craniotomy is recommended if the symptoms are pronounced.
Involuntary Movements with Cerebellar Tumour
Authors: Jayakar P.B. , Seshia S.S. 
Published: July 2016

ABSTRACT:We describe a child with a cerebellar astrocytoma who presented with paroxysmal segmental rhythmic myoclonus. The movement disorder was characterized by focal onset in the left eyelid followed by a sequential march of clinical events. There were no clinical or laboratory findings to suggest brainstem infiltration or cerebral involvement. Marked clinical improvement followed tumour resection. We suggest that the cerebellar lesion was primarily responsible for the movement disorder.
Normality and Disease
Authors: Calne Donald B. , Calne Joanna S. 
Published: July 2016

ABSTRACT:There have been trends to equate normal with an ideal state of health, and disease with disturbances that are determined solely by subclinical abnormalities. While in any living language there is a conflict between established definition and the need for change, modification in the use of words that are of such central importance to medical writing requires cogent justification that has not been forthcoming in these instances. To avoid further obscuration of the literature, the term normal should be limited to its traditional connotation of average, and the term disease should be reserved for disturbances of health that are clinically manifest.
Primary Hypothyroidism Presenting as Growth Delay and Pituitary Enlargement
Authors: Farley John D. , Toth Ellen L. , Ryan Edmond A. 
Published: July 2016

ABSTRACT:We report the case of a young boy being considered for pituitary surgery because of pituitary enlargement found during assessment of growth delay. There was no goitre but he was hypothyroid clinically and biochemically. The finding of an elevated TSH suggested primary thyroid disease with thyrotroph hyperplasia. Treatment with L-thyroxine resulted in prompt resolution of his pituitary enlargement and improvement in his visual fields.
Parental Age and Birth Order in Alzheimer's disease: A Case-Control Study in the Saguenay-Lac-St-Jean Area (Quebec, Canada)
Authors: De Braekeleer M. , Froda S. , Gautrin D. , Tetreault H. , Gauvreau D. 
Published: July 2016

ABSTRACT:Parental age at the time of birth of 133 clinically diagnosed Alzheimer patients from the Saguenay-Lac-St-Jean area (Quebec, Canada) were compared with those of 6 control groups formed out a population registry. The birth order of the Alzheimer patients was also analyzed. The results did not show any parental age or birth order effect, which is in agreement with previous reports. The importance of control selection in such studies is stressed.
Platelet Aggregability in Sleep-Related Stroke
Authors: Voll C.L. , Chetty N. , Atkinson P. 
Published: July 2016

ABSTRACT:We examined platelet aggregability during nocturnal sleep and daytime wakefulness in patients with a history of sleep-related stroke onset (SOS) and compared it to that of matched awake-onset stroke (AOS) patients and controls without evidence of vascular disease. Aggregability was evaluated in-vitro at least seven weeks following stroke onset. Platelets were more aggregable to ADP, collagen and arachidonic acid (AA) during both sleep and wakefulness in patients with AOS (p<0.01). No significant difference in the mean aggregation thresholds during sleeping or waking periods were found between SOS and control groups. However, platelets were significantly more responsive to AA during sleep than during wakefulness in the SOS patients (p<0.01). This difference was confined to the subgroup of SOS patients who had experienced nocturnal as opposed to daytime sleep-related stroke onset, suggesting that the observed difference in platelet responsiveness to AA may be related to a circadian fluctuation in platelet aggregability rather than to a sleep-related fluctuation. Significant sleep-related changes in platelet aggregability were not identified in the other two groups.
Hypertriglyceridemia and Lower LDL Cholesterol Concentration in Relation to Apolipoprotein E Phenotypes in Myotonic Dystrophy
Authors: Moorjani Sital , Gaudet Daniel , Laberge Claude , Thibault Marie Christine , Mathieu Jean , Morissette Jean , Lupien Paul J. , Brun Daniel , Gagné Claude 
Published: July 2016

ABSTRACT:Plasma lipid, lipoprotein levels and apolipoprotein apo E phenotypes were determined in 70 patients with myotonic dystrophy (MyD) and 81 controls. Marked differences were noticed in the apo E phenotype frequencies between the two groups. Plasma triglycerides and VLDL cholesterol were higher in MyD than controls, but only the latter was related to differences in the apo E phenotypes between two groups. Accordingly, the ratio of VLDL cholesterol/plasma triglycerides was increased significantly in MyD, suggesting accumulation of intermediary density particles due to lower affinity of E2 containing lipoproteins for lipoprotein cell receptors. The LDL cholesterol concentration was lower in MyD than controls and was related to differences in the apo E phenotype frequencies between the two groups. These results indicate increased removal of LDL particles in the apo E2 phenotypes, perhaps due to upregulation of LDL (B, E) receptor activity. Plasma cholesterol and HDL cholesterol concentrations were similar in both groups. Another feature of the study was lower levels of plasma cholesterol, triglycerides, VLDL and LDL cholesterol in the homozygous E4:E4 phenotype. These results suggest increased clearance rate of both VLDL and LDL particles and support the concept that apo E4-containing lipoproteins have higher in vivo affinity for ape E and/or B, E receptors.
Myotonic Dystrophy: Linkage with Apolipoprotein E and Estimation of the Gene Carrier Status with Genetic Markers
Authors: Thibault Marie-Christine , Mathieu Jean , Moorjani Sital , Lescault André , Prévost Claude , Gaudet Daniel , Morissette Jean , Laberge Claude 
Published: July 2016

ABSTRACT:The genes for myotonic dystrophy (MD) and for apolipoprotein E (ApoE) belong to a chromosome 19 synthenic group of markers. A familial linkage analysis between MD and ApoE was performed using the J Ott LIPED program (IBM PC/XT, April 1984) to estimate the genetic distance between these 2 genes. Of a total of 136 individuals in 11 MD families, 81 were confirmed to be affected by the disease and 41 were asymptomatic. ApoE phenotypes were determined in 115 of these 122 individuals. No recombinant was observed out of 74 meioses which were informatives for both MD and the ApoE isoproteins. A global maximal lod score Z of 19.00 was obtained at the recombination fraction Θ = Θ. The upper 0 value at the confidence interval corresponding to the peak lod score (Z max) - 1 was 0.03. This suggests that the loci for MD and ApoE are at a distance of 0 to 0.03 Morgan. Since ApoE and apolipoprotein C2 (ApoC2) have been shown by others to be about 40 kb apart, our data are therefore consistent with the distance estimate of 0.02 Morgan reported between MD and ApoC2. The D19S19 (LDR152) polymorphic DNA sequence is also tightly linked to MD on chromosome 19. The segregation of ApoE isoproteins and of ApoC2 and D19S19 DNA polymorphism was utilized for evaluating the probability for individuals at risk of inheriting the disease gene in MD families. Data are presented on 3 families to emphasize the usefulness of genetic markers to estimate the MD gene carrier status of asymptomatic individuals and also for those presenting a partial syndrome. The limitations of such approach are also discussed.
Neuropathy with Onion Bulb Formations and Pure Motor Manifestations
Authors: Auer Roland N. , Bell Robert B. , Lee Mary Anne 
Published: July 2016

ABSTRACT:A thirty-eight-year-old man presented with a six year history of symptoms resembling an anterior horn cell disorder. There was progressive upper extremity wasting and weakness in the absence of sensory complaints. Electrophysiologic abnormalities were confined to motor nerve conduction and indicated a demyelinating process involving the brachial plexus and major proximal upper extremity nerve trucks bilaterally. Biopsy of the proximal right ulnar nerve revealed changes suggesting a chronic demyelinating process, and onion-bulb formations were present. Immunohistochemical staining for S-100 protein was positive in the cells comprising the onion-bulbs, indicating a Schwann cell, not a perineurial origin of these cells. After 8 years, symptoms have failed to appear in the lower limbs. Recent reports in the literature have begun to delineate the syndrome, which appears to represent an unusual, localized or multifocal, sometimes inflammatory, clinically benign neuropathy that can mimic motor neuron disease in its earlier stages. We report the first such case with underlying pathology.
Progressive Multifocal Leukoencephalopathy with Gray Matter Involvement
Authors: Ledoux S. , Libman I. , Robert F. , Just N. 
Published: July 2016

ABSTRACT:An unusual case of Progressive Multifocal Leukoencephalopathy (PML) in a Haitian man with AIDS is reported. The lesions involving both white and gray matter are described radiologically and at post-mortem. The implications regarding neuroradiological differential diagnosis in AIDS as well as PML virulence in this type of patient are discussed.
Regional Metal Concentrations in Parkinson's Disease, Other Chronic Neurological Diseases, and Control Brains
Authors: Uitti Ryan J. , Rajput A.H. , Rozdilsky B. , Bickis M. , Wollin T. , Yuen W.K. 
Published: July 2016

ABSTRACT:Metal deficiency or toxicity states have been recognized as a cause of several neurological disorders and are suspected in others. We analyzed four brain regions (frontal cortex, caudate nucleus, substantia nigra, and cerebellum) in 36 human brains for concentrations of 24 metals (Ag, Al, As, B, Be, Ca, Cd, Co, Cr, Cu, Fe, K, Pb, Mg, Mn, Mo, Na, Ni, P, Se, Ti, V, W, Zn). Regional metal concentrations, measured using atomic absorption and atomic emission spectroscopy, were compared between 9 Parkinson's disease (PD) brains, 15 brains from patients with other chronic neurological diseases, and 12 control brains. No significant metal concentration differences were noted between brains from PD and other chronic neurologic disease. However, parkinsonian brains (PD and parkinsonism secondary to neurofibrillary tangle disease) showed lower concentrations of magnesium in the caudate nucleus and copper in the substantia nigra than control brains. These findings may represent an etiologically important clue to parkinsonism.
Distal Sciatic Nerve Compression by a Popliteal Artery Aneurysm
Authors: Beaudry Yves , Stewart John D. , Errett Lee 
Published: July 2016

ABSTRACT:A 77-year-old man developed progressive sensory and motor symptoms in the right lower leg. Examination showed neurological deficits in the distribution of the right tibial and common peroneal nerves. Swellings in both popliteal fossae were palpated. Investigation showed these to be large thrombosed aneurysms. On surgical examination on the right, the aneurysm was found to be compressing the distal sciatic nerve.
Methanol Poisoning: Factors Associated with Neurologic Complications
Authors: Anderson Todd J. , Shuaib Ashfaq , Becker Werner J. 
Published: July 2016

ABSTRACT:Hospital records of thirty patients with methanol poisoning were studied. Neurologic manifestations at presentation including coma, seizures and decreased visual acuity were seen in nineteen patients. The mean blood pH at presentation was significantly lower in the patients with these neurologic signs and symptoms than in the eleven patients without them (p < 0.05). Methanol levels at presentation tended to be higher in patients with neurologic manifestations at presentation and these patients tended to present later after methanol ingestion than those patients without neurologic manifestations. Fifteen patients with methanol poisoning developed serious neurologic sequelae or died. The mean blood pH was significantly lower in this patient group than in those who survived without neurologic sequelae (p < 0.05). Methanol levels at presentation were not different in the patients who developed neurologic sequelae or died as compared to those who did not. The time from ingestion of methanol to presentation at the hospital was however significantly longer in those patients who developed neurologic sequelae or died (p < 0.05). Initiation of treatment within eight hours of ingestion of methanol was associated with a better clinical outcome.
New Evidence for an Active Role of Aluminum in Alzheimer's Disease
Authors: Crapper McLachlan D.R. , Lukiw W.J. , Kruck T.P.A. 
Published: July 2016

ABSTRACT:Application of molecular biological techniques and sensitive elemental analysis have produced new evidence implicating aluminum as an important factor in down regulation of neuronal protein metabolism. Aluminum in Alzheimer's disease may act by electrostatically crosslinking proteins, particularly the methionine containing histone Hl°, and DNA. The consequence of such crosslinking is reduced transcription of at least one neuron specific gene, the low molecular weight component of neurofilaments. In the superior temporal gyrus in Alzheimer's disease, down regulation of this gene occurs in approximately 86% of surviving neurons and, therefore, aluminum must be considered as having an active role in the pathogenesis. Epidemiological studies are reviewed that independently support the hypothesis that environmental aluminum is a significant risk factor. Preliminary evidence also suggests that a disorder in phosphorylation may be an important initiating factor.
Fukuyama Type Congenital Muscular Dystrophy in a Turkish Child
Authors: Topaloğlu Haluk , Renda Yavuz , Gögüs Safiye , Benli Sibel , Nurlu Gülay , Yildirim Mustafa 
Published: July 2016

ABSTRACT:Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders which is associated with more or less degrees of cerebral involvement. There are four separate entities within CMD nosology. Among these Fukuyama's CMD (FCMD) is highly prevalent in Japan, whereas the classic form with normal or subnormal intelligence, also known as the occidental type, covers the vast majority of cases in the West. We report a case of FCMD seen in a Turkish child.
Isolated Angiitis of the Central Nervous System in Childhood
Authors: Matsell D.G. , Keene D.L. , Jimenez C. , Humphreys P. 
Published: July 2016

ABSTRACT:Isolated angiitis of the central nervous system, a rare inflammatory condition of the nervous system, characterized by vasculitis of the small vessels, has not, to the best of our knowledge, been described in childhood. It usually presents with a diversity of neurological symptoms in the fifth to eighth decades of life. We reviewed the case of an 8 year old male with autopsy proven isolated cerebral angiitis, to encourage the consideration of this disorder in children; and to emphasize the lack of sensitivity of present modalities of neurological investigation in the diagnosis.