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https://www.readbyqxmd.com/read/28816645/a-systems-model-of-parkinson-s-disease-using-biochemical-systems-theory
#1
Hemalatha Sasidharakurup, Nidheesh Melethadathil, Bipin Nair, Shyam Diwakar
Parkinson's disease (PD), a neurodegenerative disorder, affects millions of people and has gained attention because of its clinical roles affecting behaviors related to motor and nonmotor symptoms. Although studies on PD from various aspects are becoming popular, few rely on predictive systems modeling approaches. Using Biochemical Systems Theory (BST), this article attempts to model and characterize dopaminergic cell death and understand pathophysiology of progression of PD. PD pathways were modeled using stochastic differential equations incorporating law of mass action, and initial concentrations for the modeled proteins were obtained from literature...
August 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/28815864/interstitial-deletion-5p14-1-p15-2-and-5q14-3-q23-2-in-a-patient-with-clubfoot-blepharophimosis-arthrogryposis-and-multiple-congenital-abnormalities
#2
Burhan Balta, Murat Erdogan, Ayse B Ergul, Yavuz Sahin, Alper Ozcan
Interstitial deletions of the short and long arms of chromosome 5 are rare cytogenetic abnormalities. The 5p distal deletion is a genetic disorder characterized by a high-pitched cat-like cry, microcephaly, epicanthal folds, micrognathia, severe intellectual disability and motor delays. Previously, more than 46 patients with the 5q deletion have been reported. Here, we report de novo interstitial deletions involving 5p14.1-p15.2 and 5q14.3-q23.2 in a patient with multiple congenital abnormalities, including blepharophimosis, arthrogryposis, short neck, round face, pelvic kidney, agenesis of the corpus callosum, and clubfoot...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815114/an-exploration-of-latent-structure-in-observational-huntington-s-disease-studies
#3
Soumya Ghosh, Zhaonan Sun, Ying Li, Yu Cheng, Amrita Mohan, Cristina Sampaio, Jianying Hu
Huntington's disease (HD) is a monogenic neurodegenerative disorder characterized by the progressive decay of motor and cognitive abilities accompanied by psychiatric episodes. Tracking and modeling the progression of the multi-faceted clinical symptoms of HD is a challenging problem that has important implications for staging of HD patients and the development of improved enrollment criteria for future HD studies and trials. In this paper, we describe the first steps towards this goal. We begin by curating data from four recent observational HD studies, each containing a diverse collection of clinical assessments...
2017: AMIA Summits on Translational Science Proceedings
https://www.readbyqxmd.com/read/28814870/abnormal-intrinsic-functional-hubs-in-alcohol-dependence-evidence-from-a-voxelwise-degree-centrality-analysis
#4
Xiaoping Luo, Linghong Guo, Xi-Jian Dai, Qinglai Wang, Wenzhong Zhu, Xinjun Miao, Honghan Gong
OBJECTIVE: To explore the abnormal intrinsic functional hubs in alcohol dependence using voxelwise degree centrality analysis approach, and their relationships with clinical features. MATERIALS AND METHODS: Twenty-four male alcohol dependence subjects free of medicine (mean age, 50.21±9.62 years) and 24 age- and education-matched male healthy controls (mean age, 50.29±8.92 years) were recruited. The alcohol use disorders identification test and the severity of alcohol dependence questionnaire (SADQ) were administered to assess the severity of alcohol craving...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28814632/intermittent-apnea-elicits-inactivity-induced-phrenic-motor-facilitation-via-a-retinoic-acid-and-protein-synthesis-dependent-pathway
#5
Nathan A Baertsch, Tracy L Baker
Respiratory motoneuron pools must provide rhythmic inspiratory drive that is robust and reliable, yet dynamic enough to respond to respiratory challenges. One form of plasticity that is hypothesized to contribute to motor output stability by sensing and responding to inadequate respiratory neural activity is inactivity-induced phrenic motor facilitation (iPMF), an increase in inspiratory output triggered by a reduction in phrenic synaptic inputs. Evidence suggests that mechanisms giving rise to iPMF differ depending on the pattern of reduced respiratory neural activity (i...
August 16, 2017: Journal of Neurophysiology
https://www.readbyqxmd.com/read/28814249/the-neurological-sequelae-of-neonatal-hyperbilirubinemia-definitions-diagnosis-and-treatment-of-the-kernicterus-spectrum-disorders-ksds
#6
Steven Shapiro, Jean Baptiste Le Pichon, Sean M Riordan, Jon Watchkoe
Despite its lengthy history the study of benign jaundice, hyperbilirubinemia and kernicterus suffers from a lack of clarity and consistency in the key terms used to describe both the clinical and pathophysiological nature of these conditions. This has led to multiple terms being used to describe similar conditions (i.e. kernicterus and chronic bilirubin encephalopathy) or the same term being used to describe different concepts (i.e. BIND as a descriptor of the signs of bilirubin neurotoxicity, mild kernicterus, or as a scale to assess bilirubin toxicity)...
August 14, 2017: Current Pediatric Reviews
https://www.readbyqxmd.com/read/28814041/assessing-bradykinesia-in-parkinson-s-disease-using-gyroscope-signals
#7
S Summa, J Tosi, F Taffoni, L Di Biase, M Marano, A Cascio Rizzo, M Tombini, G Di Pino, D Formica
Parkinson's disease (PD) is a neurodegenerative brain disorder that slowly brings on the dopaminergic neurons death. The depletion of the dopaminergic signal causes the onset of motor symptoms such as tremor, bradykinesia and rigidity. Usually, neurologists regularly monitor motor symptoms and motor fluctuations using the MDS-UPDRS part III clinical scale. Nevertheless, to have a more objective and quantitative evaluation, it is possible to assess the cardinal motor symptoms of PD using wearable sensors and portable robotic devices...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813967/integration-of-serious-games-and-wearable-haptic-interfaces-for-neuro-rehabilitation-of-children-with-movement-disorders-a-feasibility-study
#8
Ilaria Bortone, Daniele Leonardis, Massimiliano Solazzi, Caterina Procopio, Alessandra Crecchi, Luca Bonfiglio, Antonio Frisoli
The past decade has seen the emergence of rehabilitation treatments using virtual reality environments. One of the advantages in using this technology is the potential to create positive motivation, by means of engaging environments and tasks shaped in the form of serious games. In this work, we propose a novel Neuro Rehabilitation System for children with movement disorders, that is based on serious games in immersive virtual reality with haptic feedback. The system design aims to enhance involvement and engagement of patients, to provide congruent multi-sensory afferent feedback during motor exercises, and to benefit from the flexibility of virtual reality in adapting exercises to the patient's needs...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813945/towards-a-situation-and-user-aware-multi-modal-motorized-toilet-system-to-assist-older-adults-with-disabilities-a-user-requirements-study
#9
T Pilissy, A Toth, G Fazekas, A Sobjak, R Rosenthal, T Luftenegger, P Panek, P Mayer
In the recent decades state of the art technologies appeared in many areas to assist older adults with disabilities. However, one very essential activity of daily life, the toileting remained without any relevant development. The iToilet project of the European Union focuses on the development of an intelligent and motorized toilet system to enable independent toilet use for older adults with disabilities. To begin the development, the user requirements of end-users were assessed by means of focus group interviews and questionnaires...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813944/robotic-set-up-to-quantify-hand-eye-behavior-in-motor-execution-and-learning-of-children-with-autism-spectrum-disorder
#10
Claudia Casellato, Marta Gandolla, Alessandro Crippa, Alessandra Pedrocchi
Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental disorder characterized by a persistence of social and communication impairment, and restricted and repetitive behaviors. However, motor disorders have also been described, but not objectively assessed. Most studies showed inefficient eye-hand coordination and motor learning in children with ASD; in other experiments, mechanisms of acquisition of internal models in self-generated movements appeared to be normal in autism. In this framework, we have developed a robotic protocol, recording gaze and hand data during upper limb tasks, in which a haptic pen-like handle is moved along specific trajectories displayed on the screen...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813935/influence-of-artifacts-on-movement-intention-decoding-from-eeg-activity-in-severely-paralyzed-stroke-patients
#11
Eduardo Lopez-Larraz, Carlos Bibian, Niels Birbaumer, Ander Ramos-Murguialday
Brain-machine interfaces (BMI) can be used to control robotic and prosthetic devices for rehabilitation of motor disorders, such as stroke. The calibration of these BMI systems is of paramount importance in order to establish a precise contingent link between the brain activity related to movement intention and the peripheral feedback. However, electroencephalographic (EEG) activity, commonly used to build non-invasive BMIs, can be easily contaminated by artifacts of electrical or physiological origin. The way these interferences can affect the performance of movement intention decoders has not been deeply studied, especially when dealing with severely paralyzed patients, which often generate more artifacts by compensatory movements...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813703/efficacy-and-safety-of-adjuvant-treatment-with-entacapone-in-advanced-parkinson-s-disease-with-motor-fluctuation-a-systematic-meta-analysis
#12
Jia Li, Zhiwei Lou, Xiaoyang Liu, Yajuan Sun, Jiajun Chen
AIMS: To assess the efficacy and safety of adjuvant treatment with entacapone in the treatment of later Parkinson's disease (PD) patients with motor fluctuation. METHODS: We conducted a systematic review of relevant studies from 8 databases to June 23, 2016. RESULTS: Fourteen studies were included in this review (n = 2,804). The results showed that compared with placebo, adjuvant therapy with entacapone significantly increased on time (p < 0...
August 16, 2017: European Neurology
https://www.readbyqxmd.com/read/28813460/mechanisms-for-pattern-specificity-of-deep-brain-stimulation-in-parkinson-s-disease
#13
Osvaldo Matías Velarde, Germán Mato, Damián Dellavale
Deep brain stimulation (DBS) has become a widely used technique for treating advanced stages of neurological and psychiatric illness. In the case of motor disorders related to basal ganglia (BG) dysfunction, several mechanisms of action for the DBS therapy have been identified which might be involved simultaneously or in sequence. However, the identification of a common key mechanism underlying the clinical relevant DBS configurations has remained elusive due to the inherent complexity related to the interaction between the electrical stimulation and the neural tissue, and the intricate circuital structure of the BG-thalamocortical network...
2017: PloS One
https://www.readbyqxmd.com/read/28813088/cognitive-dysfunction-in-corticobasal-degeneration
#14
Laís Machado de Oliveira, Igor Barcellos, Hélio A G Teive, Renato Puppi Munhoz
Corticobasal degeneration (CBD) was originally described as a distinct clinicopathological entity in 1967. Since then, different phenotypic presentations have emerged as possible manifestations of CBD histopathological findings. In addition, pathophysiological findings and the molecular basis have been delineated and several aspects of its cognitive manifestations have been clarified. Thus, not only the spectrum of what is currently designated as CBD has expanded, but overlap with other degenerative and even secondary disorders has made clinical diagnostic certainty even more challenging in the absence of specific and readily-available markers...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28812237/pharmacological-effects-on-ceroid-lipofuscin-and-neuronal-structure-in-cln3-%C3%A2-ex7-8-mouse-brain-cultures
#15
Douglas E Brenneman, David A Pearce, Attila Kovacs, Shawn DeFrees
Juvenile Batten disease (JBD) is an inherited disorder that is characterized by the development of blindness, seizures, and progressive motor, psychiatric, and cognitive impairment. A model of JBD expressing the predominant human mutation (Cln3 (∆ex7/8) ) has been explored. Dissociated brain cultures from Cln3 (∆ex7/8) knock-in mice were compared to wild type (WT) for effects on granules of ceroid lipofuscin (CL) and neuronal structure. Utilizing high content image analysis of CL granules identified with antibodies to mitochondrial ATP synthase subunit c or tripeptidyl peptidase-1, significant increases in the areas for both immunoreactive granules were observed in Cln3 (∆ex7/8) cultures in comparison to WT...
August 15, 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28811068/a-positron-emission-tomography-study-of-the-serotonergic-system-in-relation-to-anxiety-in-depression
#16
Zafer Iscan, Gopalkumar Rakesh, Samantha Rossano, Jie Yang, Mengru Zhang, Jeffrey Miller, Gregory M Sullivan, Priya Sharma, Matthew McClure, Maria A Oquendo, J John Mann, Ramin V Parsey, Christine DeLorenzo
Symptoms of anxiety are highly comorbid with major depressive disorder (MDD) and are known to alter the course of the disease. To help elucidate the biological underpinnings of these prevalent disorders, we previously examined the relationship between components of anxiety (somatic, psychic and motoric) and serotonin 1A receptor (5-HT1A) binding in MDD and found that higher psychic and lower somatic anxiety was associated with greater 5-HT1A binding. In this work, we sought to examine the correlation between these anxiety symptom dimensions and 5-HTT binding...
August 12, 2017: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28809854/in-the-grip-of-worry-cerebral-blood-flow-changes-during-worry-induction-and-reappraisal-in-late-life-generalized-anxiety-disorder
#17
H T Karim, D L Tudorascu, M A Butters, S Walker, H J Aizenstein, C Andreescu
Severe worry includes a complex blend of maladaptive affective and cognitive processes. Contrary to other forms of anxiety, there is no consensus in the field regarding the neural basis of worry. To date, no study has looked at neural patterns associated specifically with in-scanner induction and reappraisal of worry. In this study, we attempt to describe distinct components of the 'neural phenomenology' of worry: induction, maintenance, severity and reappraisal, by using a personalized, in-scanner worry script...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28809822/assessment-and-communication-for-people-with-disorders-of-consciousness
#18
Rupert Ortner, Brendan Z Allison, Gerald Pichler, Alexander Heilinger, Nikolaus Sabathiel, Christoph Guger
In this experiment, we demonstrate a suite of hybrid Brain-Computer Interface (BCI)-based paradigms that are designed for two applications: assessing the level of consciousness of people unable to provide motor response and, in a second stage, establishing a communication channel for these people that enables them to answer questions with either 'yes' or 'no'. The suite of paradigms is designed to test basic responses in the first step and to continue to more comprehensive tasks if the first tests are successful...
August 1, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28808928/regulation-of-survival-motor-neuron-protein-by-the-nuclear-factor-kappa-b-pathway-in-mouse-spinal-cord-motoneurons
#19
Saravanan Arumugam, Stefka Mincheva-Tasheva, Ambika Periyakaruppiah, Sandra de la Fuente, Rosa M Soler, Ana Garcera
Survival motor neuron (SMN) protein deficiency causes the genetic neuromuscular disorder spinal muscular atrophy (SMA), characterized by spinal cord motoneuron degeneration. Since SMN protein level is critical to disease onset and severity, analysis of the mechanisms involved in SMN stability is one of the central goals of SMA research. Here, we describe the role of several members of the NF-κB pathway in regulating SMN in motoneurons. NF-κB is one of the main regulators of motoneuron survival and pharmacological inhibition of NF-κB pathway activity also induces mouse survival motor neuron (Smn) protein decrease...
August 14, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28807865/novel-compound-heterozygous-mutations-identified-by-whole-exome-sequencing-in-a-japanese-patient-with-geroderma-osteodysplastica
#20
Ryojun Takeda, Masaki Takagi, Hiroyuki Shinohara, Hiroshi Futagawa, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi
Geroderma osteodysplastica (GO) is a subtype of cutis laxa syndrome characterized by congenital wrinkly skin, a prematurely aged face, extremely short stature, and osteoporosis leading to recurrent fractures. GO exhibits an autosomal recessive inheritance pattern and is caused by loss-of-function mutations in GORAB, which encodes a protein important for Golgi-related transport. Using whole exome sequencing, we identified novel compound heterozygous nonsense mutations in the GORAB in a GO patient. The patient was a 14-year-old Japanese boy...
August 11, 2017: European Journal of Medical Genetics
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