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Journal of Molecular Neuroscience : MN Feb 2021To report the phenomenology of movement disorder (MD) in neurological Wilson disease (NWD), and correlate these with MRI, and biomarkers of oxidative stress,...
To report the phenomenology of movement disorder (MD) in neurological Wilson disease (NWD), and correlate these with MRI, and biomarkers of oxidative stress, excitotoxicity, and inflammation. Eighty-two patients were included, and their phenomenology of MD was categorized. The severity of dystonia was assessed using the Burke-Fahn-Marsden score, and chorea, athetosis, myoclonus, and tremor on a 0-4 scale. The MRI changes were noted. Serum glutamate, cytokines, and oxidative stress markers were measured. Movement disorders were noted in 78/82 (95.1%) patients and included dystonia in 69 (84.1%), chorea in 31 (37.8%), tremor in 24 (29.3%), parkinsonism in 19 (23.2%), athetosis in 13 (15.9%), and myoclonus in 9 (11.0%) patients. Dystonia was more frequently observed in the patients with thalamic (76.8 vs 23.2%), globus pallidus (72.0 vs 28.0%), putamen (69.5 vs 30.5%), caudate (68.3 vs 31.7%) and brainstem (61.0 vs 39.0%) involvement, and tremor with cerebellar involvement (37.5 vs 5.2%). The median age of onset of neurological symptoms was 12 (5-50) years. WD patients had higher levels of malondialdehyde (MDA), glutamate, and cytokines (IL-6, IL-8, IL-10, and TNFα) and lower levels of glutathione and total antioxidant capacity (TAC) compared with the controls. Serum glutamate, IL-6, IL-8, and plasma MDA levels were increased with increasing neurological severity, while glutathione and TAC levels decreased. The severity of dystonia related to the number of MRI lesions. MD is the commonest neurological symptoms in WD. Oxidative stress, glutamate, and cytokine levels are increased in WD and correlate with neurological severity.
Topics: Adolescent; Adult; Age of Onset; Biomarkers; Child; Cytokines; Disease Progression; Dyskinesias; Female; Glutamic Acid; Glutathione; Hepatolenticular Degeneration; Humans; Magnetic Resonance Imaging; Male; Malondialdehyde; Movement Disorders; Neuroimaging; Oxidative Stress; Severity of Illness Index; Thiobarbituric Acid Reactive Substances; Young Adult
PubMed: 32662046
DOI: 10.1007/s12031-020-01654-0 -
Journal of Science and Medicine in Sport Dec 2020Para athletes with brain impairment are affected by hypertonia, ataxia and athetosis, which adversely affect starting, sprinting and submaximal running. The aim was to...
OBJECTIVES
Para athletes with brain impairment are affected by hypertonia, ataxia and athetosis, which adversely affect starting, sprinting and submaximal running. The aim was to identify and synthesise evidence from studies that have compared the biomechanics of runners with brain impairments (RBI) and non-disabled runners (NDR).
DESIGN
Systematic review.
METHODS
Five journal databases were systematically searched from inception to March 2020. Included studies compared the biomechanics of RBI (aged>14 years) and NDR performing either block-starts, sprinting, or submaximal running.
RESULTS
Eight studies were included, analysing a total of 100 RBI (78M:22F; 18-38 years) diagnosed with either cerebral palsy (n=44) or traumatic brain injury (n=56). Studies analysed block-starts (n=3), overground sprinting (n=3) and submaximal running (n=2), and submaximal treadmill running (n=1). Horizontal velocity during starts, sprinting and self-selected submaximal speeds were lower in RBI. During sprinting and submaximal running, compared with NDR, RBI had shorter stride length, step length, and flight time, increased ground-contact time, increased cadence, and reduced ankle and hip range of motion. In submaximal running, RBI had decreased ankle-power generation at toe-off.
CONCLUSIONS
There is limited research and small sample sizes in this area. However, preliminary evidence suggests that RBI had lower sprint speeds and biomechanical characteristics typical of submaximal running speeds in NDR, including increased ground-contact times and reduced stride length, step length, and flight times. Meaningful interpretation of biomechanical findings in RBI is impeded by impairment variability (type, severity and distribution), and methods which permit valid, reliable impairment stratification in larger samples are required.
Topics: Ankle; Biomechanical Phenomena; Brain Injuries, Traumatic; Cerebral Palsy; Gait; Hip; Humans; Knee; Range of Motion, Articular; Running; Sports for Persons with Disabilities
PubMed: 32507448
DOI: 10.1016/j.jsams.2020.05.006 -
Developmental Neurorehabilitation Nov 2020To investigate the operational competences screen navigation and dwell function underlying eye gaze performance, and the relation of dystonia and choreoathetosis with...
OBJECTIVES
To investigate the operational competences screen navigation and dwell function underlying eye gaze performance, and the relation of dystonia and choreoathetosis with eye gaze performance in children with dyskinetic cerebral palsy (DCP).
METHODS
During a 5-week intervention, ten participants with DCP played eye gaze video games daily for 30 minutes. Six games were used to assess task performance, fixation count, and eye movement accuracy during four measurements. Dystonia and choreoathetosis were evaluated using the Dyskinesia Impairment Scale.
RESULTS
Eye gaze performance improved over time ( = .013). Moderate to strong within-subject correlations were found between eye movement accuracy and task performance, and between eye movement accuracy and fixation count. No significant correlations were found with the movement disorders.
CONCLUSIONS
Eye gaze technology shows great potential to be a successful computer interface for children with severe DCP, thereby potentially improving their communication skills, participation levels, and quality of life.
Topics: Adolescent; Athetosis; Cerebral Palsy; Child; Child, Preschool; Dyskinesias; Dystonia; Eye Movements; Female; Fixation, Ocular; Humans; Male; Pilot Projects; Psychomotor Performance; Task Performance and Analysis; Video Games
PubMed: 32496837
DOI: 10.1080/17518423.2020.1770890 -
Zhonghua Yi Xue Za Zhi May 2020To evaluate the sleep status and the correlation of sleep status with inflammatory bowel disease (IBD). A case-control study was carried out, including 568 IBD...
To evaluate the sleep status and the correlation of sleep status with inflammatory bowel disease (IBD). A case-control study was carried out, including 568 IBD patients including 188 ucerative colitis (UC) patients and 380 Crohn's disease (CD) patients at 36 hospitals from January 1, 2018 to August 31, 2019, and 671 family members and healthy controls from the same cities. The survey consisted of three parts including general demographic data, clinical characteristics and sleep related factors by questionnaires. The items for sleep related factor included sleep duration on work days, sleep duration on weekends, sleep quality, sleep adequacy, snoring, sleep apnea and sleep hand foot movement. R language was used for propensity score and SPSS was used for statistical analysis. The proportion of poor sleep quality before onset in UC and CD was higher than that in healthy control group (CD: 14.5% vs 5.3%, 0.001; UC: 15.1% vs 5.4%, 0.001). In CD group, the proportion of snoring before onset (31.3% vs 44.3%, 0.001) and apnea (0.9% vs 5.5%, 0.001) was lower than that in heathy control group. The proportion of athetosis in CD was higher than that in healthy control group (35.4% vs 28.9%, 0.045). Patients with UC and CD have poor sleep quality before the onset of the disease, especially in CD patients.
Topics: Case-Control Studies; Humans; Inflammatory Bowel Diseases; Propensity Score; Sleep
PubMed: 32450643
DOI: 10.3760/cma.j.cn112137-20200226-00459 -
The Journal of Sports Medicine and... Sep 2020Cerebral palsy (CP) Football is a para-sport performed by individuals with physical impairments of athetosis, ataxia, or hypertonia. However, little is known about the...
BACKGROUND
Cerebral palsy (CP) Football is a para-sport performed by individuals with physical impairments of athetosis, ataxia, or hypertonia. However, little is known about the physical demands of para-footballers with CP, and no previous study has analysed those demands in a small-sided game (SSG). This study aims to describe physical parameters using a global positioning system device in a SSG played by CP football players.
METHODS
Fourteen male international para-footballers with CP took part in this study, which analysed their performance in an SSG of 3 vs. 3 players plus a goalkeeper per team. Also, a group of 12 football players participated as a control group.
RESULTS
The total distance covered by the CP footballers during the SSG was 1931.1±213.6 m, and the distance covered per minute was 71.2±9.3 m/min, having lower scores than the control group. The maximum speed reached was 20.1±1.8 km/h, with a metabolic power of 6.2±0.9 W/kg and lower scores than the control group. Players with the minimal eligible impairment in this para-sport (i.e., sport class FT8) covered a greater distance in high-speed zones compared to players with more severe impairments.
CONCLUSIONS
This study demonstrated that para-footballers with CP exhibited lower physical performance in an SSG compared to regular football players. Additional studies are necessary to identify the best format of an SSG for football players with CP and its application for training and evidence-based classification.
Topics: Athletic Performance; Case-Control Studies; Cerebral Palsy; Geographic Information Systems; Humans; Male; Soccer; Sports for Persons with Disabilities
PubMed: 32432446
DOI: 10.23736/S0022-4707.20.10514-0 -
BMJ Case Reports May 2020
Topics: Aged, 80 and over; Athetosis; Cerebral Infarction; Chorea; Dopamine Antagonists; Female; Humans; Ischemic Stroke; Risperidone; Tetrabenazine
PubMed: 32398250
DOI: 10.1136/bcr-2020-234861 -
Biomedical Reports Jun 2020Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by recurrent brief episodes of dystonia, chorea, athetosis or any combination of these, without...
Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by recurrent brief episodes of dystonia, chorea, athetosis or any combination of these, without alterations of consciousness. The () gene has been widely investigated as a causative gene of PKD. To date, a cluster of pathogenic variants associated with PKD have been identified in the gene. In the present case report, two Chinese patients with sporadic PKD are discussed. Genetic analysis revealed a heterozygous missense mutation, c.955G>T (p.Val319Leu) in exon 3 of the gene. Compared with the commonly reported clinical manifestation of PRRT2-associated PKD, the patients in this report showed several primary distinctive features. The mutations identified in the present analysis expand upon the mutation spectrum of the gene, and this newly found variant further reinforces the importance of the gene in PKD.
PubMed: 32346475
DOI: 10.3892/br.2020.1293 -
Experimental and Clinical Endocrinology... Jun 2020Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is... (Review)
Review
Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. Mutations in the gene have been discovered to be causative for AHDS in 2004, but a comprehensive understanding of the function of the encoded protein, monocarboxylate transporter 8 (MCT8), is incomplete. Patients with AHDS suffer from neurodevelopmental delay, as well as extrapyramidal (dystonia, chorea, athetosis), pyramidal (spasticity), and cerebellar symptoms (ataxia). This suggests an affection of the pyramidal tracts, basal ganglia, and , most likely already during fetal brain development. The function of other brain areas relevant for mood, behavior, and vigilance seems to be intact. An optimal treatment strategy should thus aim to deliver T3 to these relevant structures at the correct time points during development. A potential therapeutic strategy meeting these needs might be the delivery of T3 a "Trojan horse mechanism" by which T3 is delivered into target cells by a thyroid hormone transporter independent T3 internalization.
Topics: Basal Ganglia; Cerebellum; Humans; Mental Retardation, X-Linked; Monocarboxylic Acid Transporters; Muscle Hypotonia; Muscular Atrophy; Pyramidal Tracts; Triiodothyronine
PubMed: 32242326
DOI: 10.1055/a-1108-1456 -
Medicine Mar 2020Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease...
RATIONALE
Mutations of the NKX2-1 gene are associated with brain-lung-thyroid syndrome, which is characterized by benign hereditary chorea, hypothyroidism, and pulmonary disease with variable presentation. Surfactant protein C (SFTPC) gene mutations result in chronic interstitial lung disease in adults or severe neonatal respiratory distress syndrome.
PATIENT CONCERNS
Recurrent hypoxemia was observed shortly after birth in a baby at a gestational age of 40 weeks and birth weight of 3150 g. The need for respiratory support gradually increased. He had hypothyroidism and experienced feeding difficulties and irritability.
DIAGNOSIS
Genetic examination of the peripheral blood revealed combined mutations of the NKX2-1 and SFTPC genes.
INTERVENTIONS
The patient was administered respiratory support, antibiotics, low-dose dexamethasone, supplementary thyroxine, venous nutrition, and other supportive measures.
OUTCOMES
The patient's guardian stopped treatment 3 months after commencement of treatment, due to the seriousness of his condition and the patient died.
LESSONS
Combined mutations of NKX2-1 and SFTPC genes are very rare. Thus, idiopathic interstitial pneumonia with hypothyroidism and neurological disorders require special attention.
Topics: Athetosis; Chorea; Congenital Hypothyroidism; Fatal Outcome; Feeding and Eating Disorders; Humans; Hypothyroidism; Hypoxia; Infant, Newborn; Karyotyping; Lung Diseases, Interstitial; Male; Mutation; Palliative Care; Protein C; Pulmonary Surfactants; Recurrence; Respiratory Distress Syndrome, Newborn; Thyroid Nuclear Factor 1
PubMed: 32195974
DOI: 10.1097/MD.0000000000019650