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Articles 1 - 13 of 13
Full-Text Articles in Diseases
Association Of Ubqln1 Mutation With Brown-Vialetto-Van Laere Syndrome But Not Typical Als, Paloma Gonzalez-Perez, Yubing Lu, Ru-Ju Chian, Peter Sapp, Rudolph Tanzi, Lars Bertram, Diane Mckenna-Yasek, Fen-Biao Gao, Robert Brown
Association Of Ubqln1 Mutation With Brown-Vialetto-Van Laere Syndrome But Not Typical Als, Paloma Gonzalez-Perez, Yubing Lu, Ru-Ju Chian, Peter Sapp, Rudolph Tanzi, Lars Bertram, Diane Mckenna-Yasek, Fen-Biao Gao, Robert Brown
Dr Robert Brown
Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS). OBJECTIVE: To test if genetic variants in UBQLN1 are involved in ALS. METHODS: 102 and 94 unrelated patients with familial and sporadic forms of ALS were screened for UBQLN1 gene mutations. Single nucleotide variants were further screened in a larger set of sporadic ALS (SALS) patients and unrelated control subjects using high-throughput Taqman genotyping; variants were further assessed for novelty using the 1000Genomes and NHLBI databases. In vitro studies tested the effect of …
Genetic Determinants Of Cerebral Edema In Severe Traumatic Brain Injury: A Pilot Study Of The Role Of Cacna1 And Aqp4 Gene Mutations, Raphael A. Carandang, Susanne Muehlschlegel, Wiley R. Hall, Cynthia Ouillette, Robert H. Brown Jr.
Genetic Determinants Of Cerebral Edema In Severe Traumatic Brain Injury: A Pilot Study Of The Role Of Cacna1 And Aqp4 Gene Mutations, Raphael A. Carandang, Susanne Muehlschlegel, Wiley R. Hall, Cynthia Ouillette, Robert H. Brown Jr.
Dr Robert Brown
Cerebral edema is the one of the most significant predictors of poor outcome after traumatic brain injury. It is still unclear what the pathophysiological and cellular mechanisms and predictors of post-traumatic edema are. The exponential growth in genetic information has opened an avenue for investigation in traumatic brain injury and implicated specific genes in the pathophysiology of post-traumatic injury edema. Two examples are the Aquaporin-4 and CACNA1 genes, which respectively encode water and calcium channels. The Aquaporin-4 gene on chromosome 18q11.2-12.1 encodes the Aquaporin-4 protein (AQP4) water channel. AQP4 is one of the bidirectional high capacity water channels that is …
Gene And Stem Cell Therapies For Treating Epilepsy., Janice Naegele, Xu Maisano
Gene And Stem Cell Therapies For Treating Epilepsy., Janice Naegele, Xu Maisano
Janice R Naegele
No abstract provided.
The Plan Score, Gustavo Saposnik
Long-Term Cardiac Rhythm And Repolarization Abnormalities In Refractory Focal And Generalized Epilepsy, Maromi Nei
Long-Term Cardiac Rhythm And Repolarization Abnormalities In Refractory Focal And Generalized Epilepsy, Maromi Nei
maromi nei
This prospective study evaluated 19 individuals with refractory focal or generalized epilepsy utilizing an implantable cardiac loop recorder. Recording averaged 15 months (range 12–19 months) in 18 patients and 1.5 months in one patient. A median of 37 seizures per patient (range 3–657) occurred, with 1,477 seizures total. Cardiac arrhythmias and repolarization abnormalities occurred frequently (in 42% of patients) in refractory epilepsy, particularly during generalized tonic–clonic and tonic seizures. Patients with Lennox-Gastaut syndrome may be at high risk for cardiac abnormalities.
Intracerebral Hemorrhage In Cerebral Venous Thrombosis, Gustavo Saposnik
Intracerebral Hemorrhage In Cerebral Venous Thrombosis, Gustavo Saposnik
Gustavo Saposnik
No abstract provided.
Malignant Peripheral Nerve Sheath Tumor (Mpnst): An Overview With Emphasis On Pathology, Imaging And Management Strategies., Timothy C. Beer
Malignant Peripheral Nerve Sheath Tumor (Mpnst): An Overview With Emphasis On Pathology, Imaging And Management Strategies., Timothy C. Beer
Timothy C Beer
MPNSTs are rare malignancies that are classically associated with pre-existing plexiform neurofibromas in neurofibromatosis type 1 (NF-1) patients, but also occur in association with radiation as well as sporadically in patients with no known risk factors. The typical presentation of sporadic MPNST is a new painless enlarging mass. The typical presentation of MPNST in an NF-1 patient is rapid enlargement or new onset of pain associated with a pre-existing plexiform neurofibroma. Although both MPNST and benign neurofibromas share in common the absence of neurofibromin function due to loss of both NF-1 alleles, malignant transformation to MPNST requires several additional aberrations, …
Brazilian Longitudinal Study Of Adult Health (Elsa-Brasil): Objectives And Design., Paulo A. Lotufo
Brazilian Longitudinal Study Of Adult Health (Elsa-Brasil): Objectives And Design., Paulo A. Lotufo
Paulo A Lotufo
The Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) aims to contribute relevant information with respect to the development and progression of clinical and subclinical chronic diseases, particularly cardiovascular diseases and diabetes. In this report, the authors delineate the study's objectives, principal methodological features, and timeline. At baseline, ELSA-Brasil enrolled 15,105 civil servants from 5 universities and 1 research institute. The baseline examination (2008-2010) included detailed interviews, clinical and anthropometric examinations, an oral glucose tolerance test, overnight urine collection, a 12-lead resting electrocardiogram, measurement of carotid intima-media thickness, echocardiography, measurement of pulse wave velocity, hepatic ultrasonography, retinal fundus photography, and an …
A Reappraisal In São Paulo, Brazil (2008) Of "The Ecology Of Medical Care:" The "One Per Thousand's Rule"., Adriana Roncoletta, Gustavo D. Gusso, Isabela M. Bensenor, Paulo A. Lotufo
A Reappraisal In São Paulo, Brazil (2008) Of "The Ecology Of Medical Care:" The "One Per Thousand's Rule"., Adriana Roncoletta, Gustavo D. Gusso, Isabela M. Bensenor, Paulo A. Lotufo
Paulo A Lotufo
This paper reassessed in Brazil, the concept of "Medical ecology" i introduced in 1961 to describe the relationship and utilization of health care services by a given population. This was a cross-sectional telephone survey among a random sample of people enrolled in a private HMO. We interviewed a random sample of non-pregnant adults over age 18 using 10 questions about symptoms and health care use during the month prior to interview. The final sample consisted of 1,065 participants (mean age 68 years, 68% female). From this sample, 424 (39.8%) reported the presence of symptoms, 311 (29.2%) had a medical office …
Hypothyroidism In The Elderly, Paulo A. Lotufo
Hypothyroidism In The Elderly, Paulo A. Lotufo
Paulo A Lotufo
An overview adressing observational and randomized clinical trials about hypothyroidism in the elderly.
Chronic Non-Communicable Diseases In Brazil: Priorities For Disease Management And Research, Bruce B. Duncan, Dora Chor, Estela M. Aquino, Isabela M. Bensenor, J.Geraldo Mill, M.Ines Schmidt, Paulo A. Lotufo, Alvaro Vigo, Sandhi M. Barreto
Chronic Non-Communicable Diseases In Brazil: Priorities For Disease Management And Research, Bruce B. Duncan, Dora Chor, Estela M. Aquino, Isabela M. Bensenor, J.Geraldo Mill, M.Ines Schmidt, Paulo A. Lotufo, Alvaro Vigo, Sandhi M. Barreto
Paulo A Lotufo
Chronic Non-Communicable Diseases are the main source of disease burden in Brazil. In 2011, the Brazilian Ministry of Health launched the Strategic Plan of Action for Management of Chronic Non-Communicable Diseases focusing on population-based interventions to manage cardiovascular diseases, diabetes, cancer, and chronic respiratory diseases mainly through fi ghting tobacco use, unhealthy diets, physical inactivity and the harmful use of alcohol. Although a signifi cant number of scientifi c studies on chronic diseases and their risk factors have been undertaken in Brazil, few are of cohort design. In this context, the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), a cohort …
Bilateral Medial Medullary Infarction: A Systematic Review, Gustavo Saposnik
Bilateral Medial Medullary Infarction: A Systematic Review, Gustavo Saposnik
Gustavo Saposnik
No abstract provided.
Unmasking The Benefits Of B Vitamins In Stroke Prevention, Gustavo Saposnik
Unmasking The Benefits Of B Vitamins In Stroke Prevention, Gustavo Saposnik
Gustavo Saposnik
No abstract provided.