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68021. Immunoassay of P2 protein in cerebrospinal fluid in neurological disorders. (Full text)

Immunoassay of P2 protein in cerebrospinal fluid in neurological disorders. Cerebrospinal fluid samples were obtained at lumbar puncture from 53 patients with a wide variety of neurological disorders. Cerebrospinal fluid samples were tested for the presence of P2 protein, a constituent of myelin, with an enzyme linked immunosorbent assay technique using a specific polyclonal antibody. High concentrations of P2 in the cerebrospinal fluid paralleled a raised IgG index (clearance ratio

1991 Journal of Clinical Pathology PubMed

68022. Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease. (Full text)

Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease. World wide data on presymptomatic testing for Huntington's disease using closely linked DNA markers show that 1479 persons at risk received completed test results up to the end of 1991. Testing has been carried out in 19 countries, with at least 88 centres involved, and numbers have levelled off after a peak in 1990. Only 5% of those at risk have been

1993 Journal of Medical Genetics PubMed

68023. Forestry workers exposed to vibration: a neurological study. (Full text)

Forestry workers exposed to vibration: a neurological study. Neurological findings were examined in 186 forestry workers with a mean exposure to chain saw vibration of 16.6 hours. The prevalence of active vibration induced white fingers was 5%, parethaesias of the hands 53%, and muscle weakness 13%. Clinical polyneuropathy was observed in 16 forestry workers in the hands (7.5%) which did not correlate with alcohol consumption. Seventy nine forestry workers of the total population were selected (...) for electromyographic examination. Generalised EMG based polyneuropathy in the hands was observed in only two of the 79 forestry workers (2.5%). The carpal tunnel syndrome was found in 20 of the 79 forestry workers (26%). Headache and vertigo were not linked with exposure to vibration in forestry and a significant part of the numbness reported may be due to the carpal tunnel syndrome. Sensorimotor polyneuropathy is rare among forestry workers. The rise in the vibration detection thresholds was linked to the carpal

1988 British Journal of Industrial Medicine PubMed

68024. A cohort study of early neurological consultation by telemedicine on the care of neurological inpatients. (Full text)

A cohort study of early neurological consultation by telemedicine on the care of neurological inpatients. To find out the effect of early neurological consultation using a real time video link on the care of patients with neurological symptoms admitted to hospitals without neurologists on site.A cohort study was performed in two small rural hospitals: Tyrone County Hospital (TCH), Omagh, and Erne Hospital, Enniskillen. All patients over 12 years of age who had been admitted because (...) of neurological symptoms, over a 24 week period, to either hospital were studied. Patients admitted to TCH, in addition to receiving usual care, were offered a neurological consultation with a neurologist 120 km away at the Neurology Department of the Royal Victoria Hospital, Belfast, using a real time video link. The main outcome measure was length of hospital stay; change of diagnosis, mortality at 3 months, inpatient investigation, and transfer rate and use of healthcare resources within 3 months

2004 Neurosurgery and Psychiatry PubMed

68025. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. (Full text)

. No associated symptoms were described at that time. This family has been restudied clinically. Extensive neurological, neurophysiological, neuroradiological, and biochemical, as well as molecular techniques, have been applied to characterise the X linked recessive syndrome. The family history and extensive characterisation of 16 affected males in five generations confirmed the X linked recessive inheritance and the postlingual progressive nature of the sensorineural deafness. Some obligate carrier females (...) A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. X linked recessive deafness accounts for only 1.7% of all childhood deafness. Only a few of the at least 28 different X linked syndromes associated with hearing impairment have been characterised at the molecular level. In 1960, a large Norwegian family was reported with early onset progressive sensorineural deafness, which was indexed in McKusick as DFN-1, McKusick 304700

1995 Journal of Medical Genetics PubMed

68026. Glial activation links early-life seizures and long-term neurologic dysfunction: evidence using a small molecule inhibitor of proinflammatory cytokine upregulation. (Full text)

Glial activation links early-life seizures and long-term neurologic dysfunction: evidence using a small molecule inhibitor of proinflammatory cytokine upregulation. Early-life seizures increase vulnerability to subsequent neurologic insult. We tested the hypothesis that early-life seizures increase susceptibility to later neurologic injury by causing chronic glial activation. To determine the mechanisms by which glial activation may modulate neurologic injury, we examined both acute changes (...) in glutamate transporters, and expression of the glial protein, clusterin.P15 seizures resulted in an acute increase in hippocampal levels of IL-1beta and S100B, followed by behavioral impairment and long-term increases in GFAP and S100B. Animals in the "two-hit" group showed greater microglial activation, neurologic injury, and susceptibility to seizures compared to the adult seizure group. Glutamate transporters increased following seizures but did not differ between these two groups. Treatment

2007 Epilepsia PubMed

68027. Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. (Full text)

Cognitive evaluation of neurologically asymptomatic boys with X-linked adrenoleukodystrophy. Various studies have demonstrated abnormal neuropsychological function in boys with the childhood cerebral phenotype of X-linked adrenoleukodystrophy. Not much is known about the cognitive function of neurologically asymptomatic boys with X-linked adrenoleukodystrophy who have normal brain magnetic resonance imaging results.To describe the cognitive profile of 52 neurologically asymptomatic boys with X (...) using nonparametric Spearman rank correlation and robust median regression adjusting for full-scale IQ and socioeconomic status.All but 4 patients had normal cognitive function. There was a negative correlation between age and visual perception as well as age and visuomotor skills after adjustment for full-scale IQ and socioeconomic status.This study provides, to our knowledge, the first evidence of overall normal cognitive function in neurologically and radiologically normal boys with X-linked

2006 Archives of Neurology PubMed

68028. Neurologic links between epilepsy and depression in women: is hippocampal neuroplasticity the key? (PubMed)

Neurologic links between epilepsy and depression in women: is hippocampal neuroplasticity the key? Recent advances in our understanding of the actions of sex steroids on the brain and the pathophysiology of depression have provided a hypothetical framework that may functionally connect epilepsy, ovarian hormone levels, and depression. The hippocampus plays a critical role in both seizure activity and mood disorders, which suggests that pathology in this area of the brain might provide a link (...) those of antidepressants, loss of estrogen appears to be a critical contributor to the etiology of depressive disorders. The increased incidence of depression observed in women with epilepsy might therefore reflect a hormonal deficiency state because epilepsy is frequently associated with defects in reproductive function. In women with catamenial epilepsy, changes in gonadal steroid production are seen to link seizure frequency with reproductive state, emphasizing the importance of gonadal steroid

2006 Neurology

68029. Rho-linked genes and neurological disorders (Full text)

Rho-linked genes and neurological disorders Mental retardation (MR) is a common cause of intellectual disability and affects approximately 2 to 3% of children and young adults. Many forms of MR are associated with abnormalities in dendritic structure and/or dendritic spine morphology. Given that dendritic spine morphology has been tightly linked to synaptic activity, altered spine morphology has been suggested to underlie or contribute to the cognitive disabilities associated with MR

2007 Pflugers Archiv : European journal of physiology PubMed

68030. Neurological involvement in X-linked hypophosphataemic rickets. (Full text)

Neurological involvement in X-linked hypophosphataemic rickets. X-linked hypophosphataemic rickets is a familial form of Vitamin D resistant rickets in which gross bony and ligamentous changes may occur. Two patients showing severe spinal disease with evidence of spinal cord compression requiring neurosurgical intervention are reported. The management of such lesions may be problematic as cord compression may be found at several levels at presentation, and further difficulties develop after

1987 Journal of neurology, neurosurgery, and psychiatry PubMed

68031. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. (Full text)

Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Benign infantile familial convulsions is an autosomal dominant disorder characterized by nonfebrile seizures, with the first attack occurring at age 3-12 mo. It is one of the rare forms of epilepsy that are inherited as monogenic Mendelian traits, thus providing a powerful tool for mapping genes involved in epileptic syndromes. Paroxysmal (...) of paroxysmal neurological syndromes.

1997 American Journal of Human Genetics PubMed

68032. Hypervolemic-hemodilution during cerebral ischemia in rats: effect of diaspirin cross-linked hemoglobin (DCLHb) on neurologic outcome and infarct volume. (PubMed)

Hypervolemic-hemodilution during cerebral ischemia in rats: effect of diaspirin cross-linked hemoglobin (DCLHb) on neurologic outcome and infarct volume. In a rat model of middle cerebral artery occlusion (MCAo) and reperfusion (120 min), previous studies have demonstrated that hemodilution with molecular hemoglobin decreases ischemic brain injury. However, long-term recovery data on the therapeutic efficacy of molecular hemoglobin for cerebral ischemia are lacking. Accordingly, we assessed (...) the effect of hemodilution, with alpha-alpha diaspirin cross-linked hemoglobin (DCLHb, 10 g/dl) on neurologic outcome and infarct volume after 120 min of MCAo and 72 h of reperfusion. Ischemia was achieved by passing a 0.26-mm suture, via the external carotid artery, to internally occlude the middle cerebral artery. Immediately after MCAo, the rats were randomized to one of the following groups: Control-hematocrit not manipulated (44%); 30/Hct-hematocrit maintained at 30% with DCLHb; or 16/Hct-hematocrit

1997 Journal of neurosurgical anesthesiology

68033. Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. (Full text)

Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein. The nosology of the inborn errors of myelin metabolism has been stymied by the lack of molecular genetic analysis. Historically, Pelizaeus-Merzbacher disease has encompassed a host of neurologic disorders that present with a deficit of myelin, the membrane elaborated by glial cells that encircles and successively enwraps axons. We describe here (...) a Pelizaeus-Merzbacher pedigree of the classical type, with X-linked inheritance, a typical clinical progression, and a pathologic loss of myelinating cells and myelin in the central nervous system. To discriminate variants of Pelizaeus-Merzbacher disease, a set of oligonucleotide primers was constructed to polymerase-chain-reaction (PCR) amplify and sequence the gene encoding proteolipid protein (PLP), a structural protein that comprises half of the protein of the myelin sheath. The PLP gene in one

1989 American Journal of Human Genetics PubMed

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