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68021. Genetic Aspects of Neurologic and Psychiatric Disorders

extraction or to establish a lymphoblast cell line to be used in genetic tests. Samples will also be collected from family members and controls for these studies. Study Design Go to Layout table for study information Study Type : Observational Enrollment : 1227 participants Official Title: Genetic Aspects of Neurologic and Psychiatric Disorders Study Start Date : April 1996 Study Completion Date : March 2004 Resource links provided by the National Library of Medicine related topics: related topics (...) Genetic Aspects of Neurologic and Psychiatric Disorders Genetic Aspects of Neurologic and Psychiatric Disorders - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Genetic Aspects of Neurologic and Psychiatric

1999 Clinical Trials

68022. Long-Term Assessment for Metabolic, Cardiovascular and Neurologic Problems in HIV-Infected Patients With Increased CD4 Cells Counts Following Anti-HIV Therapy

Long-Term Assessment for Metabolic, Cardiovascular and Neurologic Problems in HIV-Infected Patients With Increased CD4 Cells Counts Following Anti-HIV Therapy Long-Term Assessment for Metabolic, Cardiovascular and Neurologic Problems in HIV-Infected Patients With Increased CD4 Cells Counts Following Anti-HIV Therapy - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record (...) Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Long-Term Assessment for Metabolic, Cardiovascular and Neurologic Problems in HIV-Infected Patients With Increased CD4 Cells Counts Following Anti-HIV Therapy The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal

1999 Clinical Trials

68023. A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease.

therapy. Study Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Actual Enrollment : 0 participants Intervention Model: Parallel Assignment Primary Purpose: Treatment Official Title: A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease. Resource links provided by the National Library of Medicine related topics: available for: resources: Arms and Interventions Go to Outcome Measures Go (...) A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease. A Phase I/II Pilot Treatment Study Of CSF Penetration And Response To Ganciclovir And Foscarnet In CMV Neurologic Disease. - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached

1999 Clinical Trials

68024. Study of Inherited Neurological Disorders

Observational Model: Other Time Perspective: Other Official Title: Clinical and Molecular Manifestations of Inherited Neurological Disorders Study Start Date : February 8, 2000 Resource links provided by the National Library of Medicine related topics: resources: Groups and Cohorts Go to Outcome Measures Go to Primary Outcome Measures : Genetic disease identification; deep phenotyping of rare genetic neurological disorders; training of fellows and students [ Time Frame: Outcome measures assessed at initial (...) Study of Inherited Neurological Disorders Study of Inherited Neurological Disorders - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Study of Inherited Neurological Disorders The safety and scientific

2000 Clinical Trials

68025. Presymptomatic testing for Huntington's disease: a world wide survey. The World Federation of Neurology Research Group on Huntington's Disease. Full Text available with Trip Pro

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

68026. Forestry workers exposed to vibration: a neurological study. Full Text available with Trip Pro

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

68027. Immunoassay of P2 protein in cerebrospinal fluid in neurological disorders. Full Text available with Trip Pro

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

68028. Dysregulated hematopoiesis and a progressive neurological disorder induced by expression of an activated form of the human common beta chain in transgenic mice. Full Text available with Trip Pro

Dysregulated hematopoiesis and a progressive neurological disorder induced by expression of an activated form of the human common beta chain in transgenic mice. Previously we described activating mutations of hbetac, the common signaling subunit of the receptors for the hematopoietic and inflammatory cytokines, GM-CSF, IL-3, and IL-5. The activated mutant, hbetacFIDelta, is able to confer growth factor-independent proliferation on the murine myeloid cell line FDC-P1, and on primary committed (...) myeloid progenitors. We have used this activating mutation to study the effects of chronic cytokine receptor stimulation. Transgenic mice were produced carrying the hbetacFIDelta cDNA linked to the constitutive promoter derived from the phosphoglycerate kinase gene, PGK-1. Transgene expression was demonstrated in several tissues and functional activity of the mutant receptor was confirmed in hematopoietic tissues by the presence of granulocyte macrophage and macrophage colony-forming cells (CFU-GM

1998 Journal of Clinical Investigation

68029. A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Full Text available with Trip Pro

A New Neurological Syndrome with Mental Retardation, Choreoathetosis, and Abnormal Behavior Maps to Chromosome Xp11 Choreoathetosis is a major clinical feature in only a small number of hereditary neurological disorders. We define a new X-linked syndrome with a unique clinical picture characterized by mild mental retardation, choreoathetosis, and abnormal behavior. We mapped the disease in a four-generation pedigree to chromosome Xp11 by linkage analysis and defined a candidate region

1999 American Journal of Human Genetics

68030. Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. Full Text available with Trip Pro

Expression of amphiphysin I, an autoantigen of paraneoplastic neurological syndromes, in breast cancer. Amphiphysin I is a 128 kD protein highly concentrated in nerve terminals, where it has a putative role in endocytosis. It is a dominant autoantigen in patients with stiff-man syndrome associated with breast cancer, as well as in other paraneoplastic autoimmune neurological disorders. To elucidate the connection between amphiphysin I autoimmunity and cancer, we investigated its expression (...) isoform which represents an alternatively spliced variant of neuronal amphiphysin I missing a 42 amino acid insert. Our study suggests a link between amphiphysin I expression in cancer and amphiphysin I autoimmunity. The enhanced expression of amphiphysin I in some forms of cancer supports the hypothesis that amphiphysin family members may play a role in the biology of cancer cells.

1998 Molecular Medicine

68031. Randomised controlled trial of telemedicine for new neurological outpatient referrals. Full Text available with Trip Pro

Randomised controlled trial of telemedicine for new neurological outpatient referrals. To test the hypothesis that telemedicine for new patient referrals to neurological outpatients is as efficient and acceptable as conventional face to face consultation.A randomised controlled trial between two groups: face to face (FF) and telemedicine (TM). This study was carried out between a neurological centre and outlying clinics at two distant hospitals linked by identical medium cost commercial (...) ) technical aspects of consultation; (c) aspects surrounding confidentiality. Diagnostic categories were also measured to check equivalence between the groups: these were structural neurological, structural non-neurological, non-structural, and uncertain.Diagnostic categories were similar (p>0.5) between the two groups. Patients in the telemedicine group had significantly more investigations (p=0.001). There was no difference in the number of drugs prescribed (p>0.5). Patients were generally satisfied

2001 Journal of neurology, neurosurgery, and psychiatry Controlled trial quality: uncertain

68032. The neurology of learning and behavioural problems in pre-adolescent children. (Abstract)

brief behaviour rating scales. In school-aged children (n = 580) cognitive achievement was assessed using standardized Dutch tests. Least-squares regression was used to examine neurobehavioural and neurocognitive links.Children with more MND clusters performed worse scholastically and had more signs of attention deficit than others. Externalizing and internalizing behaviour were only linked to specific forms of MND.Evaluation of the neurological condition of the child with learning and behavioural (...) The neurology of learning and behavioural problems in pre-adolescent children. The aim of the study was to evaluate whether in pre-adolescent children specific types of minor neurological dysfunction (MND) are related to specific types of learning and behavioural problems, and whether it is the type or the severity of neurological dysfunction that matters most.A total of 1186, 5.5-11-year-old, children were examined for the presence of clusters of signs of MND. Parents and teachers completed

2003 Acta Psychiatrica Scandinavica

68033. Molecular tracking of antigen-specific T cell clones in neurological immune-mediated disorders. (Abstract)

Molecular tracking of antigen-specific T cell clones in neurological immune-mediated disorders. T cells recognizing self or microbial antigens may trigger or reactivate immune-mediated diseases. Monitoring the frequency of specific T cell clonotypes to assess a possible link with the course of disease has been a difficult task with currently available technology. Our goal was to track individual candidate pathogenic T cell clones, selected on the basis of previous extensive studies from (...) of the candidate pathogenic T cell clones in the peripheral blood and CSF during the course of neurological disease. Using this approach, we detected variations of clonal frequencies that appeared to be related to clinical course, significant enrichment in the CSF, or both. By integrating clonotype tracking with direct visualization of antigen-specific staining, we showed that a single T cell clone contributed substantially to the overall recognition of the viral peptide/MHC complex in a patient with HAM/TSP

2003 Brain

68034. Neurological presentation of Fabry's disease in a 52 year old man. Full Text available with Trip Pro

Neurological presentation of Fabry's disease in a 52 year old man. Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha galactosidase A. Previously unrecognised Fabry's disease presenting in a 52 year old man being investigated for progressive dysarthria and ataxia is discussed. Brain magnetic resonance imaging suggested the presence of small vessel disease but skin biopsy (done to exclude cerebral autosomal dominant arteriopathy

2002 Neurosurgery and Psychiatry

68035. CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. (Abstract)

CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes. The Muckle-Wells syndrome is a rare autosomal dominant disorder belonging to the group of hereditary fever syndromes. The chronic infantile neurological cutaneous and articular (CINCA) syndrome is a systemic inflammatory disorder of unknown etiology with neonatal onset. They are considered as two different entities. We report the case of a 36-year-old man suffering (...) mutation in a heterozygous state. This case report really raises the question of a link between these two inflammatory diseases. Further studies are needed to confirm the involvement of mutations of the CIAS1 gene in CINCA syndrome.Copyright 2003 S. Karger AG, Basel

2003 Dermatology

68036. A cohort study of early neurological consultation by telemedicine on the care of neurological inpatients. Full Text available with Trip Pro

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

68037. A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. Full Text available with Trip Pro

. 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

68038. Rho-linked genes and neurological disorders Full Text available with Trip Pro

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

68039. Glial activation links early-life seizures and long-term neurologic dysfunction: evidence using a small molecule inhibitor of proinflammatory cytokine upregulation. (Abstract)

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

68040. Neurologic links between epilepsy and depression in women: is hippocampal neuroplasticity the key? (Abstract)

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

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