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[PMID]: 25073726
[Au] Autor:Formica D; Petrarca M; Rossi S; Zollo L; Guglielmelli E; Cappa P
[Ad] Address:Laboratory of Biomedical Robotics and Biomicrosystems, Università Campus Bio-Medico di Roma, via Alvaro del Portillo 21-00128, Rome, Italy. d.formica@unicampus.it.
[Ti] Title:Shoulder motor performance assessment in the sagittal plane in children with hemiplegia during single joint pointing tasks.
[So] Source:Biomed Eng Online;13:106, 2014.
[Is] ISSN:1475-925X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Pointing is a motor task extensively used during daily life activities and it requires complex visuo-motor transformation to select the appropriate movement strategy. The study of invariant characteristics of human movements has led to several theories on how the brain solves the redundancy problem, but the application of these theories on children affected by hemiplegia is limited. This study aims at giving a quantitative assessment of the shoulder motor behaviour in children with hemiplegia during pointing tasks. METHODS: Eight children with hemiplegia were involved in the study and were asked to perform movements on the sagittal plane with both arms, at low and high speed. Subject movements were recorded using an optoelectronic system; a 4-DOF model of children arm has been developed to calculate kinematic and dynamic variables. A set of evaluation indexes has been extracted in order to quantitatively assess whether and how children modify their motor control strategies when perform movements with the more affected or less affected arm. RESULTS: In low speed movements, no differences can be seen in terms of movement duration and peak velocity between the More Affected arm (MA) and the Less Affected arm (LA), as well as in the main characteristics of movement kinematics and dynamics. As regards fast movements, remarkable differences in terms of strategies of motor control can be observed: while movements with LA did not show any significant difference in Dimensionless Jerk Index (JI) and Dimensionless Torque-change Cost index (TC) between the elevation and lowering phases, suggesting that motor control optimization is similar for movements performed with or against gravity, movements with MA showed a statistically significant increase of both JI and TC during lowering phase. CONCLUSIONS: Results suggest the presence of a different control strategy for fast movements in particular during lowering phase. Results suggest that motor control is not able to optimize Jerk and Torque-change cost functions in the same way when controls the two arms, suggesting that children with hemiplegia do not actively control MA lowering fast movements, in order to take advantage of the passive inertial body properties, rather than to attempt its optimal control.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1408
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1186/1475-925X-13-106

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[PMID]: 25049388
[Au] Autor:Stangenberg L; Burzyn D; Binstadt BA; Weissleder R; Mahmood U; Benoist C; Mathis D
[Ad] Address:Center for Systems Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114; and....
[Ti] Title:Denervation protects limbs from inflammatory arthritis via an impact on the microvasculature.
[So] Source:Proc Natl Acad Sci U S A;111(31):11419-24, 2014 Aug 5.
[Is] ISSN:1091-6490
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Two-way communication between the mammalian nervous and immune systems is increasingly recognized and appreciated. An intriguing example of such crosstalk comes from clinical observations dating from the 1930s: Patients who suffer a stroke and then develop rheumatoid arthritis atypically present with arthritis on only one side, the one not afflicted with paralysis. Here we successfully modeled hemiplegia-induced protection from arthritis using the K/BxN serum-transfer system, focused on the effector phase of inflammatory arthritis. Experiments entailing pharmacological inhibitors, genetically deficient mouse strains, and global transcriptome analyses failed to associate the protective effect with a single nerve quality (i.e., with the sympathetic, parasympathetic, or sensory nerves). Instead, there was clear evidence that denervation had a long-term effect on the limb microvasculature: The rapid and joint-localized vascular leak that typically accompanies and promotes serum-transferred arthritis was compromised in denervated limbs. This defect was reflected in the transcriptome of endothelial cells, the expression of several genes impacting vascular leakage or transendothelial cell transmigration being altered in denervated limbs. These findings highlight a previously unappreciated pathway to dissect and eventually target in inflammatory arthritis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1408
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1073/pnas.1410854111

  3 / 11691 MEDLINE  
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[PMID]: 25098330
[Au] Autor:Ge W; Kuang H; Wei B; Bo L; Xu Z; Xu X; Geng D; Sun M
[Ad] Address:Institute for Fetology, the First Affiliated Hospital of Soochow University, Suzhou City, Jiangsu, China; Department of Neurology, the Affiliated Hospital of Xuzhou Medical College, Xuzhou City, Jiangsu, China; Department of Neurology, the Second Affiliated Hospital of Soochow University, Suzhou Cit...
[Ti] Title:A Novel Cysteine-Sparing NOTCH3 Mutation in a Chinese Family with CADASIL.
[So] Source:PLoS One;9(8):e104533, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset cerebral small vessel disorder caused by the mutations of the neurogenic locus notch homolog protein 3 (NOTCH3) gene. The extracellular part of NOTCH3 is composed of 34 epidermal growth factor-like (EGF-like) repeat domains. Each EGF-like domain is rich of cysteine and glycine to produce three loops that are essential for high-affinity binding to its ligand. Nearly all reported CADASIL-associated mutations result in gain or loss of a cysteine residue within the EGF-like domains. Only a few cysteine-sparing NOTCH3 mutations have been documented in the patients with CADASIL to date. Here, we reported a Chinese CADASIL family with a cysteine-sparing NOTCH3 mutation. In this family, affected patients had dizziness, memory loss, gait instability, or hemiplegia. Brain magnetic resonance imaging (MRI) showed diffuse leukoencephalopathy with confluent signal abnormalities in the periventricular white matter, basal ganglia, and centrum semiovale bilaterally. By screening the entire coding region of NOTCH3, a novel missense mutation p.G149V (c.446G>T) was found. This mutation was not detected in 400 normal controls. Considering the critical position of glycine within the C-loop of EGF-like domain and its high conservation through evolution, p.G149V mutation could be a potential pathogenic cause for CADASIL.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1408
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0104533

  4 / 11691 MEDLINE  
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[PMID]: 24739246
[Au] Autor:Heinzen EL; Arzimanoglou A; Brashear A; Clapcote SJ; Gurrieri F; Goldstein DB; Jóhannesson SH; Mikati MA; Neville B; Nicole S; Ozelius LJ; Poulsen H; Schyns T; Sweadner KJ; van den Maagdenberg A; Vilsen B; ATP1A3 Working Group
[Ad] Address:Center for Human Genome Variation, Duke University, School of Medicine, Durham, NC, USA; Department of Medicine, Section of Medical Genetics, Duke University, School of Medicine, Durham, NC, USA. Electronic address: e.heinzen@duke.edu....
[Ti] Title:Distinct neurological disorders with ATP1A3 mutations.
[So] Source:Lancet Neurol;13(5):503-14, 2014 May.
[Is] ISSN:1474-4465
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.
[Mh] MeSH terms primary: Genetic Predisposition to Disease/genetics
Mutation/genetics
Nervous System Diseases/genetics
Sodium-Potassium-Exchanging ATPase/genetics
[Mh] MeSH terms secundary: Animals
Databases, Bibliographic/statistics & numerical data
Hemiplegia/genetics
Humans
Models, Molecular
Nervous System Diseases/diagnosis
Parkinson Disease/genetics
Sodium-Potassium-Exchanging ATPase/metabolism
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Name of substance:EC 3.6.3.9 (ATP1A3 protein, human); EC 3.6.3.9 (Sodium-Potassium-Exchanging ATPase)
[Em] Entry month:1406
[Cu] Class update date: 140815
[Lr] Last revision date:140815
[Js] Journal subset:IM
[Da] Date of entry for processing:140417
[St] Status:MEDLINE

  5 / 11691 MEDLINE  
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[PMID]: 23918834
[Au] Autor:Costa C; Prontera P; Sarchielli P; Tonelli A; Bassi MT; Cupini LM; Caproni S; Siliquini S; Donti E; Calabresi P
[Ad] Address:Clinica Neurologica, Università di Perugia, Ospedale S. Maria della Misericordia, Italy.
[Ti] Title:A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.
[So] Source:Cephalalgia;34(1):68-72, 2014 Jan.
[Is] ISSN:1468-2982
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Familial hemiplegic migraine (FHM) is a rare autosomal dominant migraine subtype, characterized by fully reversible motor weakness as a specific symptom of aura. Mutations in the ion transportation coding genes CACNA1A , ATP1A2 and SCN1A are responsible for the FHM phenotype. Moreover, some mutations in ATP1A2 or SCN1A also may lead to epilepsy. CASE: Here we report on a three-generation family with five patients having a novel ATP1A2 mutation on exon 19, causing guanine-to-adenine substitution (c.2620G>A, p.Gly874Ser) that co-segregated in the five living relatives with migraine, four of whom had hemiplegic migraine. Moreover, three patients presented with epilepsy, one of whom had generalized epilepsy with febrile seizures plus (GEFS+). CONCLUSIONS: The present study provides further evidence on the involvement of ATP1A2 mutations in both migraine and epilepsy, underlying the relevance of genetic analysis in families with a comorbidity of both disorders.
[Mh] MeSH terms primary: Epilepsy/genetics
Hemiplegia/genetics
Migraine Disorders/genetics
Mutation/genetics
Polymorphism, Single Nucleotide/genetics
Sodium-Potassium-Exchanging ATPase/genetics
[Mh] MeSH terms secundary: Adult
Aged
Epilepsy/diagnosis
Female
Genetic Predisposition to Disease/genetics
Hemiplegia/diagnosis
Humans
Male
Middle Aged
Migraine Disorders/diagnosis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 3.6.1.- (ATP1A2 protein, human); EC 3.6.3.9 (Sodium-Potassium-Exchanging ATPase)
[Em] Entry month:1408
[Js] Journal subset:IM
[Da] Date of entry for processing:131220
[St] Status:MEDLINE
[do] DOI:10.1177/0333102413498941

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[PMID]: 24269013
[Au] Autor:Takahashi Y; Mogami Y; Mine J; Imai K; Koide Y; Matsuda K; Akasaka N; Konishi T; Imamura A; Inoue Y
[Ad] Address:National Epilepsy Center, Shizuoka Institute of Epilepsy and Neurological Disorder, 886 Urushiyama, Aoi-ward, Shizuoka, Japan; Department of Pediatrics, Gifu University School of Medicine, Yanagido, Gifu, Japan. Electronic address: takahashi-ped@umin.ac.jp.
[Ti] Title:Genetic variations of immunoregulatory genes associated with Rasmussen syndrome.
[So] Source:Epilepsy Res;107(3):238-43, 2013 Dec.
[Is] ISSN:1872-6844
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To elucidate the genetic predisposition of Rasmussen syndrome (RS). METHODS: In 29 Japanese patients, we examined the genome sequences of cytotoxic T-lymphocyte-associated protein 4 (CTLA4), programmed cell-death 1 (PDCD1), and T-bet (TBX21) genes by direct sequencing, and evaluated the significance of SNPs (single nucleotide polymorphism) by comparison with Hap Map data. RESULTS: In all patients, no disease-causative mutations were found in CTLA4, PDCD1, and T-bet. However, rs231775 SNP in exon 1 of CTLA4 showed significant positive genotypic (p=0.0363) and allelic associations (p=0.0137) with onset of RS compared with Japanese controls, as did rs231779 SNP in intron 1 of CTLA4 (p=0.0467 and 0.0188, respectively). Also, rs2227982 SNP in exon 5 of PDCD1 showed significant positive genotypic and allelic associations with RS (p=0.0145 and 0.0114, respectively). Poor cognitive outcome (IQ below 50) was found in 0% of wild type (C/C), 9% of heterologous (C/T) and 25% of homologous (T/T) genotype of rs2227982. Quadriplegia was found only in homologous (T/T) genotype, and hemiplegia was in heterologous (C/T) and homologous (T/T) genotype of rs2227982. No association between SNPs of T-bet and RS onset was found. Regarding SNPs in promoter regions (rs4794067 and rs17250932) of T-bet, however, IQ below 50 was found in 19% of wild type (T/T) and 0% of heterologous (T/C) genotype of rs4794067, and in 19% of wild type (T/T) and 0% of heterologous (T/C) genotype of rs17250932. Quadriplegic patients were found only in wild-type patients (rs4794067 and rs17250932). CONCLUSIONS: We identified three SNPs (rs231775, rs231779, rs2227982) as some of the SNPs associated with onset of Japanese RS. We need further studies in other populations to confirm these genetic predispositions in RS.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
CTLA-4 Antigen/genetics
Encephalitis/genetics
Genetic Variation
Programmed Cell Death 1 Receptor/genetics
T-Box Domain Proteins/genetics
[Mh] MeSH terms secundary: Adolescent
CTLA-4 Antigen/immunology
Child
Child, Preschool
Encephalitis/immunology
Female
Genetic Predisposition to Disease
Genetic Variation/immunology
Humans
Male
Polymorphism, Single Nucleotide/genetics
Polymorphism, Single Nucleotide/immunology
Programmed Cell Death 1 Receptor/immunology
Retrospective Studies
T-Box Domain Proteins/immunology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (CTLA-4 Antigen); 0 (CTLA4 protein, human); 0 (PDCD1 protein, human); 0 (Programmed Cell Death 1 Receptor); 0 (T-Box Domain Proteins); 0 (T-box transcription factor TBX21)
[Em] Entry month:1408
[Js] Journal subset:IM
[Da] Date of entry for processing:131202
[St] Status:MEDLINE

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[PMID]: 24990834
[Au] Autor:Iwaki H; Neshige S; Hara N; Takeshima S; Takamatsu K; Kuriyama M
[Ad] Address:Department of Neurology, Brain Attack Center Ota Memorial Hospital.
[Ti] Title:[Cerebral venous thrombosis as a complication of nephrotic syndrome--a case report and literature review].
[So] Source:Rinsho Shinkeigaku;54(6):495-501, 2014.
[Is] ISSN:1882-0654
[Cp] Country of publication:Japan
[La] Language:jpn
[Ab] Abstract:We report two cases of cerebral venous thrombosis as a complication of nephrotic syndrome. No urine protein or kidney disease was noted in either case. The patients were diagnosed with nephrotic syndrome after admission to our hospital. Case 1: The patient was a 46-year-old man. He experienced headache and vomiting the day after he drank heavily. Contrast brain computed tomography (CT) and magnetic resonance imaging (MRI) revealed a defect in the transverse sinus, straight sinus, and superior sagittal sinus. His blood was hemo-concentrated, and blood test results indicated high D-dimer and fibrinogen levels and decrease of antithrombin III. Case 2: The patient was an 89-year-old woman. After the diarrhea lasted suffering from ischemic colitis, she developed left hemiplegia and headache. Brain CT revealed hematoma in the subcortical region of the right frontal lobe and a high signal in the straight sinus. The superior sagittal sinus showed high-signal intensity on T1-weighted MRI and mild high-signal intensity on T2-weighted MRI. High fibrinogen levels were detected in the blood. Patients with nephrotic syndrome have a thrombotic tendency; both venous thrombosis and arterial thrombosis may occur. In the literature, the number of published cases of cerebral venous thrombosis was 10-fold that of cerebral artery thrombosis as a complication of nephrotic syndrome in individuals aged <20 years. In adults, however, the number of cerebral venous thrombosis was 2-fold that of cerebral artery thrombosis cases were reported. Nephrotic syndrome shows a thrombotic tendency, but cerebral venous thrombosis may develop as a result of another thrombotic factor. Management of life along with the conventional treatment of nephrotic syndrome is important.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1407
[Js] Journal subset:IM
[St] Status:In-Process

  8 / 11691 MEDLINE  
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[PMID]: 24029006
[Au] Autor:Lee DK; Kang MH; Kim JW; Kim YG; Park JH; Oh JS
[Ad] Address:Graduate School, Department of Rehabilitation Science, INJE University, Gimhae, South Korea....
[Ti] Title:Effects of non-paretic arm exercises using a tubing band on abdominal muscle activity in stroke patients.
[So] Source:NeuroRehabilitation;33(4):605-10, 2013.
[Is] ISSN:1878-6448
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Abdominal strengthening exercises are important for stroke patients; however, there is a lack of research on therapeutic exercises for increasing abdominal muscle activity in stroke patients. OBJECTIVE: We investigated the effects of non-paretic arm exercises using a tubing band on abdominal muscle activity in stroke patients. METHODS: In total, 18 hemiplegic subjects (13 males, 5 females) were recruited. All subjects performed non-paretic arm exercises involving three different shoulder movements (extension, flexion, and horizontal abduction) using an elastic tubing band. Surface electromyography (EMG) signals were recorded from the rectus abdominis (RA), external oblique (EO), and internal oblique (IO) muscles bilaterally during non-paretic arm exercises. RESULTS: EMG activities of abdominal muscles during non-paretic arm extension and horizontal abduction were increased significantly versus shoulder flexion when subjects performed the arm exercise in a seated position. Muscle activity of the EO was significantly greater in the paretic than the non-paretic side during non-paretic arm extension and horizontal abduction. CONCLUSIONS: We suggest that non-paretic arm extension and horizontal abduction exercises using an elastic tubing band may be effective in increasing abdominal muscle activity.
[Mh] MeSH terms primary: Arm/physiology
Exercise Therapy/instrumentation
Hemiplegia/rehabilitation
Rectus Abdominis/physiology
Stroke/rehabilitation
[Mh] MeSH terms secundary: Aged
Aged, 80 and over
Analysis of Variance
Electromyography
Female
Hemiplegia/etiology
Humans
Male
Middle Aged
Muscle Contraction
Neuroimaging
Severity of Illness Index
Stroke/complications
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1408
[Js] Journal subset:IM
[Da] Date of entry for processing:131216
[St] Status:MEDLINE
[do] DOI:10.3233/NRE-131003

  9 / 11691 MEDLINE  
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[PMID]: 25025801
[Au] Autor:Carr J
[Ti] Title:Reappraisal of the early treatment of hemiplegia in adults.
[So] Source:Aust J Physiother;21(4):151-4, 1975 Dec.
[Is] ISSN:0004-9514
[Cp] Country of publication:Australia
[La] Language:eng
[Ab] Abstract:The presence of large numbers of post stroke patients sitting in nursing homes in front of television is not a refutation of the value of rehabilitation, but a demonstration of a general attitude of medical and nursing staff to stroke, coupled with an unawareness of the importance of immediate referral from the medical practitioner. This attitude persists despite reference to the importance of early treatment in the literature. Following a survey in Belfast, Adams and Merrett (1961) wrote "the earlier physical retraining began the better". Sommerville (1968) and others similarly stress the importance of early treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1407
[Cu] Class update date: 140811
[Lr] Last revision date:140811
[Da] Date of entry for processing:140716
[St] Status:PubMed-not-MEDLINE

  10 / 11691 MEDLINE  
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[PMID]: 25089908
[Au] Autor:Domagalska-Szopa M; Szopa A
[Ad] Address:Institute of Medical Rehabilitation, Department of Physiotherapy, School of Health Sciences, Medical University of Silesia, Katowice, Poland.
[Ti] Title:Gait Pattern Differences between Children with Mild Scoliosis and Children with Unilateral Cerebral Palsy.
[So] Source:PLoS One;9(8):e103095, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:This study was conducted to investigate the effects of asymmetrical body posture alone, i.e., the effects seen in children with mild scoliosis, vs. the effects of body posture control impairment, i.e., those seen in children with unilateral cerebral palsy on gait patterns. Three-dimensional instrumented gait analysis (3DGA) was conducted in 45 children with hemiplegia and 51 children with mild scoliosis. All the children were able to walk without assistance devices. A set of 35 selected spatiotemporal gait and kinematics parameters were evaluated when subjects walked on a treadmill. A cluster analysis revealed 3 different gait patterns: a scoliotic gait pattern and 2 different hemiplegic gait patterns. The results showed that the discrepancy in gait patterns was not simply a lower limb kinematic deviation in the sagittal plane, as expected. Additional altered kinematics, such as pelvic misorientation in the coronal plane in both the stance and swing phases and inadequate stance phase hip ad/abduction, which resulted from postural pattern features, were distinguished between the 3 gait patterns. Our study provides evidence for a strong correlation between postural and gait patterns in children with unilateral cerebral palsy. Information on differences in gait patterns may be used to improve the guidelines for early therapy for children with hemiplegia before abnormal gait patterns are fully established. The gait pathology characteristic of scoliotic children is a potential new direction for treating scoliosis that complements the standard posture and walking control therapy exercises with the use of biofeedback.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1408
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1371/journal.pone.0103095


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