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https://www.readbyqxmd.com/read/28320130/spg2-mimicking-multiple-sclerosis-in-a-family-identified-using-next-generation-sequencing
#1
Anna Rubegni, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M Santorelli, Antonio Federico
Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28314762/cerebral-microhemorrhages-mechanisms-consequences-and-prevention
#2
Zoltan I Ungvari, Stefano Tarantini, Angelia C Kirkpatrick, Anna Csiszar, Calin I Prodan
The increasing prevalence of multifocal cerebral microhemorrhages (CMHs, also known as "cerebral microbleeds") is a significant, newly recognized problem in the aging population of the Western world. CMHs are associated with rupture of small intracerebral vessels and are thought to progressively impair neuronal function, potentially contributing to cognitive decline, geriatric psychiatric syndromes and gait disorders. Clinical studies show that aging and hypertension significantly increase prevalence of CMHs...
March 17, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28306736/identifying-predictive-motor-factors-for-falls-in-post-menopausal-breast-cancer-survivors
#3
Marek Zak, Malgorzata Biskup, Pawel Macek, Halina Krol, Szymon Krupnik, Anna Opuchlik
OBJECTIVE: Breast cancer treatment, including radical surgery, is also pursued as late as the 7th - 8th decade of women's lives. Standard physical rehabilitation procedures offered to those women are predominantly focused on attenuating specific functional deficits of the upper limb and trunk. Seldom do they entail any regimens specifically aimed at recovering overall functionality, and reducing exposure to falls-risk. The study aimed to assess potential interrelationships between the self-reported falls, individual functional capabilities and appreciably reducing exposure to falls-risk in a group of post-menopausal, post-surgical breast cancer survivors...
2017: PloS One
https://www.readbyqxmd.com/read/28291734/safety-assessment-of-the-aqueous-extract-of-the-flowers-of-nymphaea-lotus-linn-nymphaeaceae-acute-neuro-and-subchronic-oral-toxicity-studies-in-albinos-wistar-rats
#4
Mireille Kameni Poumeni, Danielle Claude Bilanda, Paul Désiré Dzeufiet Djomeni, Yolande Sandrine Mengue Ngadena, Marguerite Francine Mballa, Madeleine Chantal Ngoungoure, Agnès Carolle Ouafo, Théophile Dimo, Pierre Kamtchouing
BACKGROUND: Nymphaea lotus Linn (N. lotus) is a medicinal plant widely used in Cameroon popular medicine, to treat neuropsychiatric conditions, male sexual disorders or as food supplement. However, scientific data on the pharmacotoxic profile of this plant are not available. The safety of N. lotus was assessed in acute, neuro- and subchronic toxicity studies by following the OECD guidelines. Effectively, no data have been published until now in regard to its safety on the nervous system...
March 14, 2017: Journal of Complementary & Integrative Medicine
https://www.readbyqxmd.com/read/28290191/effects-of-progressive-resistance-exercise-in-akinetic-rigid-parkinson-s-disease-patients-a-randomized-controlled-trial
#5
Luis Santos, Javier Fernandez-Rio, Kristian Winge, Beatriz Barragán-Pérez, Lucía González-Gómez, Vicente Rodríguez-Pérez, Vicente González-Díez, Alejandro Lucía, Eliseo Iglesias-Soler, Xurxo Dopico-Calvo, Miguel Fernández-Del-Olmo, Miguel Del-Valle, Miguel Blanco-Traba, Oscar E Suman, Javier Rodríguez-Gómez
BACKGROUND: Progressive resistance exercise (PRE) can have a positive effect in individuals with Parkinson's disease (PD). However, the effect of PRE may vary with the clinical subtype of PD. To date, no study has assessed the effects of PRE in the different subtypes of PD. AIM: The aim of the present study was to assess the effects of PRE in PD patients with akinesia and rigidity (AR-subtype). DESIGN: A randomized controlled trial was conducted...
March 13, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28289647/central-pontine-myelinolysis-induced-by-alcohol-withdrawal-a-case-report
#6
Jae Ho Kim, Sae Hyun Kim, Ho Joong Jeong, Young Joo Sim, Dong Kyu Kim, Ghi Chan Kim
Central pontine myelinolysis (CPM) is a demyelinating disorder characterized by the loss of myelin in the center of the basis pons, and is mainly caused by the rapid correction of hyponatremia. We report the case of a young woman who presented with gait disturbance and alcohol withdrawal, and who was eventually diagnosed with CPM. Generally, the cause and pathogenesis of CPM in chronic alcoholics remain unclear. In this cases, the CPM may be unrelated to hyponatremia or its correction. However, it is possible that the osmotic pressure changes due to refeeding syndrome after alcohol withdrawal was the likely cause in this case...
February 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28288563/is-independence-of-older-adults-safe-considering-the-risk-of-falls
#7
Dorota Talarska, Magdalena Strugała, Marlena Szewczyczak, Sławomir Tobis, Michał Michalak, Izabela Wróblewska, Katarzyna Wieczorowska-Tobis
BACKGROUND: Falls affect approx. 30% of elderly population per year. They cause major injuries and reduce independence of the older adults' functioning. The main objective of the study was to evaluate the degree of independence and find the fall risk factors in the study group. METHODS: The study included 506 - older adults. The study group included patients from GP clinics and members of two senior centers. The study duration was 12 months. Our study tools included EASY- Care Standard 2010 questionnaire, Abbreviated Mental Test Score (AMTS), Index Barthel, Instrumental Activities of Daily Living Scale (IADL), Geriatric Depression Scale (GDS), Timed Up and Go (TUG)...
March 14, 2017: BMC Geriatrics
https://www.readbyqxmd.com/read/28284567/the-analysis-of-three-dimensional-ground-reaction-forces-during-gait-in-children-with-autism-spectrum-disorders
#8
C Z C Hasan, Rozita Jailani, N Md Tahir, Suryani Ilias
Minimal information is known about the three-dimensional (3D) ground reaction forces (GRF) on the gait patterns of individuals with autism spectrum disorders (ASD). The purpose of this study was to investigate whether the 3D GRF components differ significantly between children with ASD and the peer controls. 15 children with ASD and 25 typically developing (TD) children had participated in the study. Two force plates were used to measure the 3D GRF data during walking. Time-series parameterization techniques were employed to extract 17 discrete features from the 3D GRF waveforms...
March 8, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28283747/magnetic-resonance-diffusion-tensor-imaging-for-the-pedunculopontine-nucleus-proof-of-concept-and-histological-correlation
#9
A T D L Alho, C Hamani, E J L Alho, R E da Silva, G A B Santos, R C Neves, L L Carreira, C M M Araújo, G Magalhães, D B Coelho, M C Alegro, M G M Martin, L T Grinberg, C A Pasqualucci, H Heinsen, E T Fonoff, E Amaro
The pedunculopontine nucleus (PPN) has been proposed as target for deep brain stimulation (DBS) in patients with postural instability and gait disorders due to its involvement in muscle tonus adjustments and control of locomotion. However, it is a deep-seated brainstem nucleus without clear imaging or electrophysiological markers. Some studies suggested that diffusion tensor imaging (DTI) may help guiding electrode placement in the PPN by showing the surrounding fiber bundles, but none have provided a direct histological correlation...
March 10, 2017: Brain Structure & Function
https://www.readbyqxmd.com/read/28279852/effectiveness-of-surgical-and-non-surgical-management-of-crouch-gait-in-cerebral-palsy-a-systematic-review
#10
REVIEW
Scott A Galey, Zachary F Lerner, Thomas C Bulea, Seymour Zimbler, Diane L Damiano
BACKGROUND: Cerebral palsy (CP) is a prevalent group of neuromotor disorders caused by early injury to brain regions or pathways that control movement. Patients with CP exhibit a range of functional motor disabilities and pathologic gait patterns. Crouch gait, characterized by increased knee flexion throughout stance, is a common gait pattern in CP that increases energy costs of walking and contributes to ambulatory decline. Our aim was to perform the first systematic literature review on the effectiveness of interventions utilized to ameliorate crouch gait in CP...
February 24, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28279773/deep-brain-stimulation-of-pedunculopontine-nucleus-for-postural-instability-and-gait-disorder-after-parkinson-s-disease-a-meta-analysis-of-individual-patient-data
#11
Jia-Wei Wang, Yu-Qing Zhang, Xiao-Hua Zhang, Yun-Peng Wang, Ji-Ping Li, Yong-Jie Li
BACKGROUND: Postural instability and gait disorder(PIGD) in Parkinson's disease (PD) have been a great challenge in the clinical practice since PIGD is closely linked to major morbidity and mortality in PD. Pedunculopontine nucleus (PPN) has been considered as a potential promising target for deep brain stimulation (DBS) in the treatment of PIGD. Thus, this meta-analysis of individual patient data (IPD) was performed to assess the effects of PPN DBS on PIGD in PD patients and explore the factors predicting good outcome...
March 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28277561/ataxia-oculomotor-apraxia-type-1-in-the-siblings-of-a-family-a-novel-mutation
#12
Parvaneh Karimzadeh, Simin Khayatzadeh Kakhki, Shaghayegh Sadat Esmail Nejad, Masood Houshmand, Mohammad Ghofrani
Although AOA1 (ataxia oculomotor apraxia1) is one of the most common causes of autosomal recessive cerebellar ataxias in Japanese population, it is reported from all over the world. The clinical manifestations are similar to ataxia telangiectasia in which non-neurological manifestations are absent and include almost 10% of autosomal recessive cerebellar ataxias. Dysarthria and gait disorder are the most two common and typical manifestations. Oculomotor apraxia is usually seen a few years after the manifestations start...
2017: Iranian Journal of Child Neurology
https://www.readbyqxmd.com/read/28273601/reducing-gait-speed-affects-axial-coordination-of-walking-turns
#13
Caroline Forsell, David Conradsson, Caroline Paquette, Erika Franzén
Turning is a common feature of daily life and dynamic coordination of the axial body segments is a cornerstone for safe and efficient turning. Although slow walking speed is a common trait of old age and neurological disorders, little is known about the effect of walking speed on axial coordination during walking turns. The aim of this study was to investigate the influence of walking speed on axial coordination during walking turns in healthy elderly adults. Seventeen healthy elderly adults randomly performed 180° left and right turns while walking in their self-selected comfortable pace and in a slow pace speed...
February 27, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28272238/association-between-sleep-duration-and-sarcopenia-among-community-dwelling-older-adults-a-cross-sectional-study
#14
Xiaoyi Hu, Jiaojiao Jiang, Haozhong Wang, Lei Zhang, Birong Dong, Ming Yang
Both sleep disorders and sarcopenia are common among older adults. However, little is known about the relationship between these 2 conditions.This study aimed to investigate the possible association between sleep duration and sarcopenia in a population of Chinese community-dwelling older adults.Community-dwelling older adults aged 60 years or older were recruited. Self-reported sleep duration, anthropometric data, gait speed, and handgrip strength were collected by face-to-face interviews. Sarcopenia was defined according to the recommended algorithm of the Asian Working Group for Sarcopenia (AWGS)...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28271039/deep-multi-scale-location-aware-3d-convolutional-neural-networks-for-automated-detection-of-lacunes-of-presumed-vascular-origin
#15
Mohsen Ghafoorian, Nico Karssemeijer, Tom Heskes, Mayra Bergkamp, Joost Wissink, Jiri Obels, Karlijn Keizer, Frank-Erik de Leeuw, Bram van Ginneken, Elena Marchiori, Bram Platel
Lacunes of presumed vascular origin (lacunes) are associated with an increased risk of stroke, gait impairment, and dementia and are a primary imaging feature of the small vessel disease. Quantification of lacunes may be of great importance to elucidate the mechanisms behind neuro-degenerative disorders and is recommended as part of study standards for small vessel disease research. However, due to the different appearance of lacunes in various brain regions and the existence of other similar-looking structures, such as perivascular spaces, manual annotation is a difficult, elaborative and subjective task, which can potentially be greatly improved by reliable and consistent computer-aided detection (CAD) routines...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28269317/sudden-changes-in-walking-surface-compliance-evoke-contralateral-emg-in-a-hemiparetic-walker-a-case-study-of-inter-leg-coordination-after-neurological-injury
#16
Jeffrey Skidmore, Panagiotis Artemiadis
Gait impairment due to neurological disorders is a significant problem around the world. Despite the growing interest in using robotic devices for gait rehabilitation, their widespread use remains limited as there is no clear evidence that robot-assisted gait therapy is superior to traditional treadmill-based therapy. This work is a case study that focuses on investigating the existence of mechanisms of inter-leg coordination after neurological injury, and based on that, proposing novel methods for gait rehabilitation...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28269129/a-view-invariant-gait-cycle-segmentation-for-ambient-monitoring
#17
Hao Wu, Beilei Xu, Himanshu Madhu, Jing Zhou
Gait analysis has many clinical applications in disease detection and treatment evaluation. Gait cycle segmentation is a critical component in gait analysis for timing the gait phases in evaluating many movement disorders. Computer vision techniques have been widely used in surveillance for security monitoring. They are nonintrusive and do not require cooperation from subjects. In this paper, we propose to leverage the videos from existing surveillance monitoring systems to provide long-term and ambient assessments of gait patterns from subjects' daily activity without the requirement of wearing a device...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28264542/a-case-series-study-on-the-efficacy-of-functional-surgery-associated-with-early-intensive-rehabilitation-therapy-in-charcot-marie-tooth-type-1a-disease
#18
Francesco Ferraro, Barbara Dusina, Irene Carantini, Roberto Strambi, Emanuela Galante, Luca Gaiani
BACKGROUND: Charcot-Marie-Tooth (CMT) is a genetically and clinically heterogeneous disorder, and it is caused by alterations in genes with different loci that encode for proteins, resulting into metabolic and structural defects. The most common form of the disease is CMT1A. Treatment of the disease, due to the absence of an effective pharmacological therapy, mainly relies on surgical treatment and rehabilitative therapy. However, the Literature is still poor of evidences on this subject...
March 6, 2017: European Journal of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/28261436/orthopedic-manifestations-of-type-i-camurati-engelmann-disease
#19
Alisher J Yuldashev, Chang Ho Shin, Yong Sung Kim, Woo Young Jang, Moon Seok Park, Jong Hee Chae, Won Joon Yoo, In Ho Choi, Ok Hwa Kim, Tae-Joon Cho
BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course...
March 2017: Clinics in Orthopedic Surgery
https://www.readbyqxmd.com/read/28259768/-18-f-fp-cit-dopamine-transporter-pet-findings-in-cirrhotic-patients-with-parkinsonism
#20
Hui-Jun Yang, Seol Hoon Park, Minjung Seo, Young Cheol Weon, Yangho Kim
We report the clinical features and imaging findings of presynaptic dopamine transporter (DAT) positron emission tomography (PET) in four of patients with liver cirrhosis and concurrent parkinsonism. We also reviewed previously reported cases of cirrhosis-related parkinsonism using dopaminergic molecular imaging. Our results using (18)F-radiolabeled N-(3-fluoropropyl)-2β-carboxymethoxy-3β-(4-iodophenyl) nortropane (FP-CIT) DAT PET in four patients with cirrhosis and parkinsonism showed two different molecular imaging patterns well related to their neurological symptoms...
March 1, 2017: Neurotoxicology
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