bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and Family Studies in Friedreich's Ataxia
Authors: Andermann E. , Remillard G.M. , Goyer C. , Blitzer L. , Andermann F. , Barbeau A. 
Published: July 2016

SUMMARY:This study consists of two parts: I. A detailed genetic analysis of 35 sibships in which 58 individuals were affected with Friedreich’s ataxia; and 2. Clinical and laboratory examinations of parents and siblings, in an attempt at carrier detection and diagnosis of the pre-clinical state.The increased parental consanguinity, the lack of affected individuals in other generations, and the lack of significance of extrinsic etiological variables, all suggested an autosomal recessive mode of inheritance, and this was confirmed by formal genetic analyses, employing several different methods.Associated abnormalities in our series of 58 patients included cardiomyopathy (51.7%), diabetes melitus (19.0%), optic atrophy (5.2%), nerve deafness (5.2%) and congenital malformations (6.9%). The incidence of diabetes mellitus. congenital malformations, and epilepsy and lor febrile convulsions was elevated in first degree relatives of patients with Friedreich’s ataxia.Examinations in first degree relatives revealed an increased frequency of neurological and skeletal abnormalities (26.3%). but no abnormalities on neuro-ophthalmological examination. Frequent EMG abnormalities were noted in parents (56.3%). but not in siblings; and these could usually be attributed to extrinsic causes. There was an increased incidence of ECG abnormalities in both parents (50.0%) and siblings (25.0% and some of these abnormalities may represent cardiomyopathy. An increased frequency of EEG abnormalities was also recorded in parents (14.3%) and siblings (27.2%). but these were not specific. None of these examinations resulted in a practicable method of carrier detection or preclinical diagnosis.Since carrier detection is still not feasible, genetic counselling remains the only possible means of prevention of Friedreich’s ataxia.
Bilirubin Metabolism — Preliminary Investigation
Authors: Barbeau A. , Breton G. , Lemieux B. , Butterworth R.F. 
Published: July 2016

SUMMARY:In our studies, high total bilirubin values in the plasma were noted in cases of Friedreich's ataxia. A bimodal distribution of the values indicated the possible presence of two subgroups of patients. In these kindred, we demonstrated an elevation in unconjugated bilirubin with features similar to those reported in Gilbert's syndrome: normal liver function tests, elevation after fasting and day to day variability. We also report preliminary experiments indicating that bilirubin levels may be taurine dependent. We postulate that the defect could be a secondary component of the ataxic disease, possibly indicating a defect in membrane transport.
Amino Acid Metabolism in Friedreich's Ataxia
Authors: Lemieux B. , Barbeau A. , Beroniade V. , Shapcott D. , Breton G. , Geoffroy G. , Melançon S. 
Published: July 2016

SUMMARY:A study of amino acids determined by sequential Multi-sample Amino Acid Automatic Analyzer in plasma, urine and cerebrospinal fluid (CSF) in patients with Friedreich's ataxia and control subjects has revealed a number of mathematically significant variations from normal. Of practical physiological importance are the following: a high urinary excretion of alanine with slightly elevated plasma levels; a low plasma and CSF concentration of aspartic acid in the resence of normal urinary values and finally a low CSF concentration of taurine accompanied by normal plasma levels, but elevated urinary output and renal clearance rates. We postulate that the modifications in alanine and aspartic acid are less specific and probably secondary, but there could be a genetic defect in the membrane transport of taurine and the other β-amino acids in Friedreich's ataxia.
Pyruvate Metabolism in Friedreich's Ataxia
Authors: Barbea A. , Butterworth R.F. , Ngo T. , Breton G. , Melançon S. , Shapcott D. , Geoffroy G. , Lemieux B. 
Published: July 2016

SUMMARY:Friedreich's ataxia patients show evidence of an abnormally elevated and prolonged response of pyruvate and lactate to a glucose load, with normal fasting levels. However, there is a bimodal distribution of this response with high and low pyruvate responders. This trait appears to be determined genetically, However, although in vivo tests suggest low oxidation of pyruvate, we were unable to confirm any in vitro impairment of each of the components of the pyruvate dehydrogenase (PDH) complex. We conclude that the defect is in the metabolic regulation of PDH, probably at the E3(lipoamide dehydrogenase) step.
Polyglycolic Acid Suture in Peripheral Nerve II: Sutured Sciatic Nerve
Authors: Hudson Alan R. , Hunter Daniel 
Published: July 2016

SUMMARY:This experiment investigates the holding property of polyglycolic acid suture in repair of divided dog sciatic nerves and the influence of absorption of this synthetic material on regeneration. The conclusion is that PGA maintains its tensile strength sufficiently long to allow both physical union and good regeneration of the divided nerve. The suture absorption does not influence regeneration.
Gliosis and Glioma Distinguished by Acridine Orange
Authors: Sarnat Harvey B. , Curry Bernadette , Rewcastle N.B. , Trevenen Cynthia L. 
Published: July 2016

Abstract:Acridine orange fluorochrome of nucleic acids was applied to sections of cerebral tissue from 20 patients showing acute or chronic reactive gliosis. The results were compared with the findings in 39 well differentiated and malignant astrocytomas. The orange cytoplasmic fluorescence of ribonucleic acid is lacking in reactive astrocytes of all ages including gemistocytes, but is uniformly present in astrocytoma cells. Acridine orange is a useful supplementary stain for distinguishing between astrocytosis and astrocytoma, paticularly for small cerebral biopsies showing scattered or diffusely infiltrating pleomorphic glial cells.
Botulinum Toxin for Benign Essential Blepharospasm, Hemifacial Spasm and Age-Related Lower Eyelid Entropion
Authors: Carruthers Jean , Stubbs Harrison A. 
Published: July 2016

Abstract:Purified botulinum A exotoxin was used in the treatment of forty seven patients with benign essential blepharospasm, 11 patients with hemifacial spasm and 2 patients with age-related entropion. The treatment was effective in all three groups for an average of 3-4 months when symptoms recurred and repeated chemodenervation with toxin was needed. The commonest complication was transient ptosis with an overall frequency of 7.8%. This incidence increased to 11.1% with toxin doses higher than 25 units per orbicularis. The treatment was well accepted by the patients, who were subsequently able to return to pre-blepharospasm lifestyles.
The Natural History of Multiple Sclerosis
Authors: Weinshenker B.G. , Ebers G.C. 
Published: July 2016

ABSTRACT:Studies which have attempted to define the outcome of multiple sclerosis (MS) have methodologic difficulties arising from patient referral biases and the length of follow-up required, which make prospective studies of an inception cohort unrealistic. Means to improve the validity of retrospective natural history studies are suggested. Results of existing series are summarized and compared. Survival is only rarely shortened by MS, but disability to the point of requiring aids for ambulation occurs in 30-70% of patients by 15 years from onset of symptoms. Disagreement as to the percentage of patients who are ultimately bedridden by MS likely arises in large part due to differences in patient ascertainment and follow-up. The need to develop early clinical markers for the patient at high risk for rapid development of major disability is stressed.
The Relationship Between Timing of Surgery and Operative Complications in Aneurysmal Subarachnoid Hemorrhage
Authors: Tucker William S. 
Published: July 2016

ABSTRACT:The optimal timing of definitive aneurysm repair following subarachnoid hemorrhage remains a controversial issue. In order to examine whether the timing of surgery alters the incidence of certain technical difficulties and complications associated with intracranial aneurysm repair, data from two recent co-operative studies were examined. The cases submitted to the International Co-operative Study on Timing of Aneurysm Surgery by the University of Toronto hospitals, and the cases submitted from multiple centres to the Three-Dose Multicentre Randomized Double-Blind Nimodipine Study were evaluated with regard to operative difficulties and complications, comparing early (≤ 3 days) and late (≥ 4 days) surgery following subarachnoid hemorrhage. No significant differences were found in the incidence of such technical problems between the early and late surgical groups. If differences in outcome occur between comparable groups of patients operated early and late after aneurysm rupture, factors other than surgical technical complications may be responsible.
Cochlear Nerve Monitoring During Cerebellopontine Angle Operations
Authors: Rowed D.W. , Nedzelski J.M. , Cashman M.Z. , Stanton S. , Harrison R.V. 
Published: July 2016

ABSTRACT:The authors present their experience with intraoperative monitoring of cochlear nerve action potentials (AP) in 30 adult patients. Operative procedures were acoustic neuroma excision with attempted hearing preservation and selective vestibular neurectomy in patients with incapacitating Meniere's disease and serviceable hearing (SRT<50 db, discrimination >60%). Loss of AP is detected rapidly and has been demonstrated after manipulation of the cochlear nerve and after coagulation of small arteries on the tumour capsule. Presence of an AP at the end of the procedure usually correlates with postoperative preservation of hearing. AP monitoring appears to be a reliable means of detecting potentially reversible changes in cochlear nerve function intraoperatively.
Calcification in a Recent Cerebral Infarct - Radiologic and Pathologic Correlation
Authors: Parisi J. , Place C. , Nag S. 
Published: July 2016

ABSTRACT:This 60 year old male developed a right hemiplegia and aphasia. A C.T. head scan showed a cerebral infarct which appeared hyperdense on a subsequent scan done 18 days after presentation. This was interpreted as indicating a hemorrhagic transformation resulting in discontinuation of anticoagulation therapy. At autopsy, the area of infarction in the left frontoparietal hemisphere appeared intensely green due to breakdown of the blood-brain barrier in the presence ofjaundice. A striking finding on microscopy was the presence of calcium salts throughout the area of infarction but most prominent in the grey matter at the periphery of the infarct corresponding to the areas which appeared hyperdense on the CT head scan and stained intensely with bilirubin. There was no evidence of recent hemorrhage. This case illustrates that calcification can occur within weeks after the onset of a recent cerebral infarct and should be considered when interpreting the development of C.T. scan hyperdensity in recent cerebral infarcts.
Diagnosis of Central Nervous System Lupus
Authors: O'Connor Paul 
Published: July 2016

ABSTRACT:Central nervous system (CNS) involvement in systemic lupus erythematosus is a major source of patient morbidity and mortality. The recognition of nervous system lupus is hampered by the diagnostic insensitivity and non-specificity of the various testing modalities that are currently available. A review of the effectiveness of diagnostic tests for CNS lupus is presented. Areas of current research in this area are examined. Because of the diversity of neurologic manifestations in this disorder and their complex pathogenesis, no single test is sufficient to establish the diagnosis rapidly and accurately in all cases, now or for the foreseeable future.
Evoked Potential Studies in Friedreich's Ataxia and Progressive Early Onset Cerebellar Ataxia
Authors: Vanasse M. , Garcia-Larrea L. , Neuschwander Ph. , Trouillas P. , Mauguière F. 
Published: July 2016

ABSTRACT:We recorded somatosensory evoked potentials (SEP) in 15 patients affected by Friedreich's ataxia (FA) and in 9 patients with progressive early onset cerebellar ataxia (PEOCA). Brainstem auditory evoked potentials (BAEP) were also recorded in 14 FA patients and in five PEOCA patients. SEP results showed clear differences between groups of FA, evidence of peripheral involvement was seen in all patients, with absence of the N9 potential or a major reduction of its amplitude. In patients in whom central responses could be recorded, conduction velocity was normal or near normal up to the brainstem but was reduced from brainstem to cerebral cortex. Four patients with PEOCA had SEP abnormalities similar to those seen in FA. In the five other patients, the amplitude and latency of N9 were normal but conduction velocity was reduced from brainstem to cerebral cortex. In FA, BAEP were abnormal in all patients with a disease duration of four years or more but were normal in four of the five PEOCA patients. Systematic evoked potential recording is useful in the investigation of hereditary ataxias.
Do the Corticospinal and Corticobulbar Tracts Mediate Functions in the Human Newborn?
Authors: Sarnat Harvey B. 
Published: July 2016

ABSTRACT:Unlike the numerous dispersed bulbospinal pathways that are already well myelinated at term, the more compact corticospinal and corticobulbar tracts are only beginning their myelination cycle in late gestation and do not complete it until two years of age. During this same period, these pathways also develop extensive ramification of terminal axonal segments, growth of collateral axons, and proliferation of synapses. Despite their immaturity in the fullterm human newborn, several proposed functions may be attributed to the descending pathways from the neonatal cerebral cortex: a) a contribution to the differential development of passive muscle tone and resting postures; in general they function as an antagonist to the “subcorticospinal pathways” in mediating proximal flexion and distal extension, except for the rubrospinal tract which is probably synergistic with the corticospinal tract; b) enhancement of tactile reflexes originating in the brainstem and spinal cord, including suck and swallow; c) relay of epileptic activity of cortical origin; d) inhibition of complex stereotyped motor reflexes including many phenomena formerly termed “subtle seizures”; e) a possible influence on muscle maturation, particularly in relaying cerebellar impulses that modify the histochemical differentiation of myofibres. However, the bulbospinal tracts are probably more influential on muscle development. The corticospinal and corticobulbar tracts subserve different needs in the newborn than at older ages, but are functionally important pathways even at birth.
Abnormalities in Iron Metabolism in Multiple Sclerosis
Authors: Valberg Leslie S. , Flanagan Peter R. , Kertesz Ann , Ebers George C. 
Published: July 2016

ABSTRACT:High iron concentrations have been reported in the brains of multiple sclerosis victims. To determine if there are abnormalities in general iron metabolism indicative of iron overload in MS, measurements of transferrin saturation, serum ferritin and red cell ferritin in 31 female and 18 male patients were compared to the results in 49 age- and sex-matched healthy controls. Compared to controls, mean serum ferritin in MS was high, whereas transferrin saturation and red cell ferritin were similar. High values in one or more individual test results were observed in eleven MS patients. They were prevalent in patients who required bilateral assistance to walk or were confined to a chair, and appeared to be related to the severity of the disease. An investigation was made into the relationship of the high serum ferritin values in MS to the HLA-A3 histocompatibility antigen, a marker of the hemochromatosis gene which is prevalent in MS. A statistically significant interaction was not found between serum ferritin and the presence of HLA-A3.
Bilateral Hypoglossal Palsies: A Late Complication of Curative Radiotherapy
Authors: Johnston Eamon F. , Hammond Alex J. , Cairncross J. Gregory 
Published: July 2016

ABSTRACT:A 57 year old man developed bilateral hypoglossal nerve palsies 6 years after radiotherapy for carcinoma of the uvula. Follow-up over 2 years has demonstrated no evidence of tumour recurrence and no sign of neurological improvement. Reactive fibrosis and vascular insufficiency secondary to radiation and may have lead to hypoglossal nerve compression and infarction.
Neuropathology of Heart Transplantation
Authors: Ang L.C. , Gillett J.M. , Kaufmann J.C.E. 
Published: July 2016

ABSTRACT:The neuropathology of 18 cardiac transplant recipients was reviewed with the clinical findings. Pathological changes were noted in the central nervous system (CNS) in 94% of the patients, the most frequent being cerebral vascular in origin (72%). Eight patients (44%) had multiple cerebral infarcts and morphologically, a large number of these antedated the transplantation. In addition 4 patients had acute focal ischemic changes which occurred after transplantation. Intracranial hemorrhage was noted in 5 patients (28%), including one case of fatal intracerebral hemorrhage following an acute hypertensive episode after the transplantation. While systemic infection was common (10 patients), there were only 5 cases of intracranial infection; including 3 cases of cytomegalovirus infection, one of candidiasis and one of aspergillosis. Post-transplant seizures, occurring in a third of the patients, were related to a variety of causative factors such as sepsis, intracranial hemorrhage, cerebral ischemia, metabolic encephalopathy and cyclosporin neurotoxicity. Of note in this series was the absence of CNS lymphoma or other systemic lymphoproliferative disorder.
PET Studies of Parkinsonian Patients Treated with Autologous Adrenal Implants
Authors: Guttman M. , Burns R.S. , Martin W.R.W. , Peppard R.F. , Adam M.J. , Ruth T.J. , Allen G. , Parker R.A. , Tulipan N.B. , Calne D.B. 
Published: July 2016

ABSTRACT:Transplantation of autologous adrenal medulla tissue into the striatum has recently been proposed as a treatment for Parkinson's disease. We report the use of positron emission tomography (PET) to evaluate patients who had adrenal implants placed into the right caudate. 6-[18F] fluoro-L-dopa (6-FD) scans were performed to study the integrity and activity of the implant, and the nigrostriatal dopamine system before and six weeks after transplantation surgery. [68Ga] Gallium-ethylenediaminetetraacetate (Ga) scans were also performed to assess the blood brain barrier. The Ga scans performed on two patients showed increased permeability of the blood brain barrier at the surgical site. 6-FD PET scans in five patients did not show a consistent change in striatal uptake following adrenal medullary implantation after six weeks. Further assessment of implant viability with 6-FD PET scans after longer follow up may provide useful information if the blood-brain barrier becomes re-established with the passage of time.
The Effects of Body Weight Support on the Locomotor Pattern of Spastic Paretic Patients
Authors: Visintin M. , Barbeau H. 
Published: July 2016

ABSTRACT:The effects of mechanically supporting a percentage of body weight on the gait pattern of spastic paretic subjects during treadmill locomotion was investigated. Electromyographic (EMG), joint angular displacement and temporal distance data were simultaneously recorded while 7 spastic paretic subjects walked at 0% and 40% body weight support (BWS) at their maximal comfortable treadmill speed. Forty percent BWS produced a general decrease in EMG mean burst amplitude for the lower limb muscles investigated with instances of more appropriate EMG timing in relation to the gait cycle. The joint angular displacement data at 40% BWS revealed straighter trunk and knee alignment during the weight bearing phase especially at initial foot-floor contact and midstance. An increase in single limb support time and a decrease in percentage total double support time were evident at 40% BWS. An increase in stride length and maximum comfortable walking speed was also seen with BWS. The use of BWS during treadmill locomotion as a therapeutic approach to retrain gait in neurologically impaired patients is discussed.
Temporal Intermittent Rhythmic Delta Activity (TIRDA) in the Diagnosis of Complex Partial Epilepsy: Sensitivity, Specificity and Predictive Value
Authors: Reiher Jean , Beaudry Michel , Leduc Charles P. 
Published: July 2016

ABSTRACT:Temporal interictal rhythmic delta activity or TIRDA was found in 45 of the 127 recordings of patients with complex partial epilepsy (CPE) referred for both awake and sleep EEC TIRDA was more abundant during drowsiness and light sleep; it occurred more characteristically as trains of 50-100 µv sinusoidal or saw-toothed l-4Hz activity, recorded predominantly from anterior temporal regions. When occurring bilaterally and independently, TIRDA varied from side to side. TIRDA is often found in association with anterior temporal spikes or sharp waves (TS) particularly during sleep, as observed in 43 out of 45 EEGs. TIRDA can nevertheless occur as an isolated abnormality, as noted in two sleep and 12 awake study recordings. Because of its high specificity and positive predictive value over a large range of prevalence, TIRDA should be singled out as an accurate interictal indicator of CPE. In patients with isolated TIRDA, the cost of prolonged EEG recording during sleep for the purpose of activating TS has to be weighed against the yield of eventually confirming the obvious.
Inclusion Body Myositis Associated with Progressive Dysphagia: Treatment with Cricopharyngeal Myotomy
Authors: Danon Moris J. , Friedman Michael 
Published: July 2016

ABSTRACT:A 68-year-old man known to have inclusion body myositis underwent a cricopharyngeal myotomy in an attempt to improve his progressive dysphagia. Morphological studies from tissues obtained during this procedure showed the diagnostic features typical of this chronic inflammatory myopathy. To our knowledge this is the first pathological demonstration of inclusion body myositis involving the pharyngeal skeletal musculature.
The Relationship Between Alzheimer's Disease, Parkinson's Disease and Motor Neuron Disease
Authors: Calne Donald B. , Eisen Andrew 
Published: July 2016

ABSTRACT:We argue against the dominant status assigned to conventional microscopy in the categorization of disorders such as Alzheimer's disease, Parkinson's disease and ALS. As an example we criticize the emphasis that has been placed on correlating the presence of Lewy bodies with the diagnosis of Parkinson's disease. In essence, we submit that Parkinson's disease can exist without Lewy bodies, and Lewy bodies can exist without Parkinson's disease. Nevertheless, we consider that the newer techniques available to histology have led to an important concept that constitutes a shared feature for Alzheimer's disease. Parkinson's disease and ALS; they are all characterized by the deposition of cytoskeletal debris in tissue, so they may perhaps be collectively termed the “Cytoskeletal Disorders”.
Association Between Alzheimer Disease and Amyotrophic Lateral Sclerosis?
Authors: Frecker M.F. , Fraser F.C , Andermann E. , Pryse-Phillips W.E.M. 
Published: July 2016

ABSTRACT:We report two cases of Alzheimer disease (AD) — one of them familial — in which the patient also had amyotrophic lateral sclerosis (ALS), and one patient with familial AD who had a son with ALS. Three further cases of probable ALS were found in pedigrees of AD reported from the literature. It is proposed that this association is not coincidental, but may suggest an etiological factor in common.