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https://www.readbyqxmd.com/read/28538514/long-term-outcome-of-4-patients-with-transcobalamin-deficiency-caused-by-2-novel-tcn2-mutations
#1
Marwan Nashabat, Gustavo Maegawa, Peter H Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel
Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in methylmalonic acid and homocysteine. Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28535762/gait-initiation-and-termination-strategies-in-patients-with-prader-willi-syndrome
#2
Veronica Cimolin, Nicola Cau, Manuela Galli, Cristina Santovito, Graziano Grugni, Paolo Capodaglio
BACKGROUND: Gait Initiation (GI) is a functional task representing one of the first voluntary destabilizing behaviours observed in the development of a locomotor pattern as the whole body centre of mass transitions from a large to a small base of support. Conversely, Gait Termination (GT) consists in the transition from walking to standing which, in everyday life, is a very common movement. Compared to normal walking, it requires higher control of postural stability. For a safe GT, the forward movement of the body has to be slowed down to achieve a stable upright position...
May 23, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28533617/estimated-lower-speed-boundary-at-which-the-walk-ratio-constancy-is-broken-in-healthy-adults
#3
Rumi Murakami, Yohei Otaka
[Purpose] The ratio of step length to cadence (walk ratio) is invariant over a wide range of speeds. However, no studies have investigated details of the change in the walk ratio at slow speeds. It is necessary to explore how walking behavior changes at a low speed to understand the slow walking observed in various conditions such as aging and pathological conditions. In this study, changes in the walk ratio at slow speeds were investigated, and a lower boundary was estimated at which the walk ratio constancy is broken...
April 2017: Journal of Physical Therapy Science
https://www.readbyqxmd.com/read/28530503/comparison-of-self-selected-walking-speeds-and-walking-speed-variability-when-data-are-collected-during-repeated-discrete-trials-and-during-continuous-walking
#4
Marcus J Brown, Laura A Hutchinson, Michael J Rainbow, Kevin J Deluzio, Alan R De Asha
A typical gait analysis data collection consists of a series of discrete trials, where a participant initiates gait, walks through a motion capture volume, and then terminates gait. This is not a normal 'everyday' gait pattern, yet measurements are considered representative of normal walking. However, walking speed, a global descriptor of gait quality that can affect joint kinematics and kinetics, may be different during discrete trials, compared to continuous walking. Therefore, the purpose of this study was to investigate the effect of continuous walking versus discrete trials on walking speed and walking speed variability...
May 22, 2017: Journal of Applied Biomechanics
https://www.readbyqxmd.com/read/28525675/acellular-dermal-matrix-and-heel-reconstruction-a-new-prospective
#5
Alessandro Scalise, Matteo Torresetti, Federica Verdini, Marianna Capecci, Elisa Andrenelli, Alessandro Mengarelli, Maria Gabriella Ceravolo, Sandro Fioretti, Giovanni Di Benedetto
BACKGROUND: Heel reconstruction represents a challenge for all plastic surgeons due to the anatomical and functional features of this weight-bearing area. In the last decade a combined use of acellular dermal matrices and skin grafts has been proposed as a reliable and less invasive alternative for complex wound management; nevertheless only a few cases have been reported in the literature. METHODS: We describe the long-term outcome of 2 cases of severe degloving trauma of the plantar region with massive soft tissue defects of the foot, that underwent surgical reconstruction with artificial dermis and skin grafts...
May 19, 2017: Journal of Applied Biomaterials & Functional Materials
https://www.readbyqxmd.com/read/28523357/lesion-location-associated-with-balance-recovery-and-gait-velocity-change-after-rehabilitation-in-stroke-patients
#6
Hyun Im Moon, Hyo Jeong Lee, Seo Yeon Yoon
PURPOSE: Impaired gait function after stroke contributes strongly to overall patient disability. However, the response to rehabilitation varies between individuals. The aims of this study were to identify predictors of gait velocity change and to elucidate lesion location associated with change of balance and gait function. METHODS: We reviewed 102 stroke patients. The patients were divided into two groups according to gait ability post-rehabilitation, and we analyzed differences in their characteristics, such as demographic information, lesion factors, and initial balance function...
May 18, 2017: Neuroradiology
https://www.readbyqxmd.com/read/28521343/tarlov-cyst-causing-sacral-insufficiency-fracture
#7
Ross C Puffer, Marcus J Gates, William Copeland, William E Krauss, Jeremy Fogelson
BACKGROUND AND IMPORTANCE: Tarlov cysts, also known as perineural cysts, have been described as meningeal dilations of the spinal nerve root sheath between the peri- and endoneurium at the dorsal root ganglion. Most often they are found in the sacrum involving the nerve roots. Normally asymptomatic, they have been reported to present with radiculopathy, paresthesias, and even urinary or bowel dysfunction. Sacral insufficiency has not been a well-documented presentation. CLINICAL PRESENTATION: The patient is a 38-year-old female who started to develop left low back pain and buttock pain that rapidly progressed into severe pain with some radiation down the posterior aspect of her left leg...
June 1, 2017: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/28521148/dual-task-interference-on-postural-sway-postural-transitions-and-gait-in-people-with-parkinson-s-disease-and-freezing-of-gait
#8
Ana Claudia de Souza Fortaleza, Martina Mancini, Patty Carlson-Kuhta, Laurie A King, John G Nutt, Eliane Ferrari Chagas, Ismael Forte Freitas, Fay B Horak
Freezing of gait (FoG) is associated with less automatic gait and more impaired cognition, balance and postural transitions compared to people with PD who do not have FoG. However, it is unknown whether dual-task cost during postural sway, postural transitions (such as gait initiation and turning), and gait are more in subjects with Parkinson's disease (PD) who have freezing of gait (FoG+) compared to those who do not have FoG (FoG-). Here, we hypothesized that the effects of a cognitive dual task on postural sway, postural transitions and gait would be larger in FoG+ than FoG-...
May 10, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28515555/quantitative-balance-and-gait-measurement-in-patients-with-frontotemporal-dementia-and-alzheimer-diseases-a-pilot-study
#9
Selva Ganapathy Velayutham, Sadanandavalli Retnaswami Chandra, Srikala Bharath, Ravi Girikamatha Shankar
INTRODUCTION: Alzhiemers disease and Frontotemporal dementia are common neurodegenerative dementias with a wide prevalence. Falls are a common cause of morbidity in these patients. Identifying subclinical involvement of these parameters might serve as a tool in differential analysis of these distinct parameters involved in these conditions and also help in planning preventive strategies to prevent falls. PATIENTS AND METHODS: Eight patients in age and gender matched patients in each group were compared with normal controls...
March 2017: Indian Journal of Psychological Medicine
https://www.readbyqxmd.com/read/28509934/the-role-of-the-prefrontal-cortex-in-freezing-of-gait-in-parkinson-s-disease-insights-from-a-deep-repetitive-transcranial-magnetic-stimulation-exploratory-study
#10
Moria Dagan, Talia Herman, Anat Mirelman, Nir Giladi, Jeffrey M Hausdorff
Freezing of Gait (FOG) is one of the most debilitating gait impairments in Parkinson's disease (PD), leading to increased fall risk and reduced health-related quality of life. The utility of parkinsonian medications is often limited in the case of FOG and it frequently becomes dopamine resistant. Recent studies have suggested that pre-frontal cortex (PFC) dysfunction contributes to FOG; however, most previous findings provide only indirect evidence. To better understand the role of the PFC, we aimed to investigate the impact of high frequency, deep, repetitive transcranial magnetic stimulation (drTMS) of the medial PFC on FOG and its mediators...
May 16, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28509819/cortical-and-physical-function-after-mild-traumatic-brain-injury
#11
Alia L Yasen, David R Howell, Li-Shan Chou, Angela M Pazzaglia, Anita D Christie
PURPOSE: The aim of this study was to prospectively examine the association between intracortical inhibition and functional recovery after mild traumatic brain injury (mTBI). METHODS: Twenty individuals with mTBI and 20 matched control participants were assessed using transcranial magnetic stimulation, the Attentional Network Test, and gait analysis. Hierarchical linear modeling was used to longitudinally examine potential differences between groups and relationships in the pattern of recovery in cortical silent period (CSP) duration, cognitive reaction time, and single- and dual-task walking speeds across five testing time points...
June 2017: Medicine and Science in Sports and Exercise
https://www.readbyqxmd.com/read/28503144/rigid-ankle-foot-orthosis-deteriorates-mediolateral-balance-control-and-vertical-braking-during-gait-initiation
#12
Arnaud Delafontaine, Olivier Gagey, Silvia Colnaghi, Manh-Cuong Do, Jean-Louis Honeine
Rigid ankle-foot orthoses (AFO) are commonly used for impeding foot drop during the swing phase of gait. They also reduce pain and improve gait kinematics in patients with weakness or loss of integrity of ankle-foot complex structures due to various pathological conditions. However, this comes at the price of constraining ankle joint mobility, which might affect propulsive force generation and balance control. The present study examined the effects of wearing an AFO on biomechanical variables and electromyographic activity of tibialis anterior (TA) and soleus muscles during gait initiation (GI)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28490168/primary-glioblastoma-of-the-cerebellopontine-angle-case-report-and-review-of-the-literature
#13
Ji-Hye Lee, Jong Hyun Kim, Taek-Hyun Kwon
Glioblastoma multiforme (GBM) is located most frequently in the cerebral hemispheres. Glioblastoma presenting as an extraaxial mass of cerebellopontine angle (CPA) is very rare in adults. We report a rare case of GBM arising in the CPA. The patient was a 71-year-old female, who complained of progressive gait disturbance and poor memory. Initial magnetic resonance imaging (MRI) revealed a 1.4×1.3 cm mass in the left CPA, with broad base to the petrous bone, showing homogenous enhancement. Follow-up MRI showed a rapid increase in size of mass (2...
May 2017: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/28489810/a-case-report-of-hereditary-neuropathy-with-liability-to-pressure-palsies-accompanied-by-type-2-diabetes-mellitus-and-psoriasis
#14
Jing Li, Bing Niu, Xiaoling Wang, Huaiqiang Hu, Bingzhen Cao
RATIONALE: Hereditary neuropathy with liability to pressure palsy (HNPP) is an episodic, multifocal neuropathy, with a typical clinical presentation of recurrent transient pressure palsies, which is induced by a PMP22 deletion. Another neuropathy caused by a PMP22 duplication is Charcot-Marie-Tooth disease type 1A (CMT1A). PMP22 is a gene coding a protein called peripheral myelin protein 22 (PMP22), which plays an essential role in the formation and maintenance of compact myelin. Coexistence of type 2 diabetes mellitus (T2DM) and CMT1A has been reported in many work, however HNPP patients with T2DM are rare, and comorbidity of HNPP and psoriasis has not been reported previously...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28489319/low-physical-activity-as-a-key-differentiating-factor-in-the-potential-high-risk-profile-for-depressive-symptoms-in-older-adults
#15
Sofie Holmquist, Sabina Mattsson, Ingrid Schele, Peter Nordström, Anna Nordström
BACKGROUND: The identification of potential high-risk groups for depression is of importance. The purpose of the present study was to identify high-risk profiles for depressive symptoms in older individuals, with a focus on functional performance. METHODS: The population-based Healthy Ageing Initiative included 2,084 community-dwelling individuals (49% women) aged 70. Explorative cluster analysis was used to group participants according to functional performance level, using measures of basic mobility skills, gait variability, and grip strength...
May 10, 2017: Depression and Anxiety
https://www.readbyqxmd.com/read/28487630/analysis-of-interrelationships-among-voluntary-and-prosthetic-leg-joint-parameters-using-cyclograms
#16
Farahiyah Jasni, Nur Azah Hamzaid, Nor Elleeiana Mohd Syah, Tze Y Chung, Noor Azuan Abu Osman
The walking mechanism of a prosthetic leg user is a tightly coordinated movement of several joints and limb segments. The interaction among the voluntary and mechanical joints and segments requires particular biomechanical insight. This study aims to analyze the inter-relationship between amputees' voluntary and mechanical coupled leg joints variables using cyclograms. From this analysis, the critical gait parameters in each gait phase were determined and analyzed if they contribute to a better powered prosthetic knee control design...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28486158/tolerability-of-lacosamide-or-zonisamide-in-elderly-patients-with-seizures
#17
Rani A Sarkis, Johny Nicolas, Jong Woo Lee
PURPOSE: The prevalence of seizures in the elderly will increase as populations age. Data is currently limited regarding treatment and especially tolerability of newer antiseizure medications (ASMs). In the current study we aimed to investigate the tolerability of lacosamide (LCS) and zonisamide (ZNS). METHOD: We performed a retrospective chart review of patients with seizures older than 60 treated with LCS or ZNS in the outpatient setting. We examined seizure variables, medical comorbidities, and concomitant medications...
April 29, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28483559/effect-of-taping-on-multi-segmental-foot-kinematic-patterns-during-walking-in-persons-with-chronic-ankle-instability
#18
Bart Dingenen, Kevin Deschamps, Frauke Delchambre, Evelien Van Peer, Filip F Staes, Giovanni A Matricali
OBJECTIVES: To evaluate multi-segmental foot kinematic patterns in chronic ankle instability (CAI) participants during walking, and to investigate the influence of high-Dye and low-Dye taping on these kinematic patterns. DESIGN: Cross-sectional study. METHODS: Kinematic data of 12 non-injured controls and 15 CAI participants were measured with a three-dimensional motion analysis system during barefoot walking. In addition, the CAI participants walked with high-Dye and low-Dye taping...
April 21, 2017: Journal of Science and Medicine in Sport
https://www.readbyqxmd.com/read/28482202/interlimb-transfer-of-motor-skill-learning-during-walking-no-evidence-for-asymmetric-transfer
#19
Chandramouli Krishnan, Rajiv Ranganathan, Manik Tetarbe
Several studies have shown that learning a motor skill in one limb can transfer to the opposite limb-a phenomenon called as interlimb transfer. The transfer of motor skills between limbs, however, has shown to be asymmetric, where one side benefits to a greater extent than the other. While this phenomenon has been well-documented in the upper-extremity, evidence for interlimb transfer in the lower-extremity is limited and mixed. This study investigated the extent of interlimb transfer during walking, and tested whether this transfer was asymmetric using a foot trajectory-tracking paradigm that has been specifically used for gait rehabilitation...
April 27, 2017: Gait & Posture
https://www.readbyqxmd.com/read/28481738/outcomes-of-botulinum-toxin-type-a-for-equinovarus-deformity-in-patients-with-cva-a-case-series
#20
Priya Karakkattil, Elaine Trudelle-Jackson, Heather Hilliard Brown, Patrick Hammontree, Mary Okolo
BACKGROUND: There is evidence that Botulinum Toxin-A (BTX-A) reduces focal spasticity associated with equinovarus to improve gait in patients poststroke. However, there is little research examining whether gait improvements are maintained after the effectiveness period of BTX-A injections. The purpose of this observational study was to determine whether there was a difference in gait parameters in three patients before BTX-A injection versus four and ten weeks after. CASE SERIES: Three women, ages 63, 60, and 42 postischemic stroke with hemiparesis and equinovarus underwent measurements for: plantar flexor spasticity, ankle dorsiflexion ROM, temporal-spatial gait parameters, and gait endurance...
May 2017: Physiotherapy Theory and Practice
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