HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.

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HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.

BMJ Open. 2016 Apr 29;6(4):e009537

Authors: Friez MJ, Brooks SS, Stevenson RE, Field M, Basehore MJ, Adès LC, Sebold C, McGee S, Saxon S, Skinner C, Craig ME, Murray L, Simensen RJ, Yap YY, Shaw MA, Gardner A, Corbett M, Kumar R, Bosshard M, van Loon B, Tarpey PS, Abidi F, Gecz J, Schwartz CE

Abstract
BACKGROUND: X linked intellectual disability (XLID) syndromes account for a substantial number of males with ID. Much progress has been made in identifying the genetic cause in many of the syndromes described 20-40 years ago. Next generation sequencing (NGS) has contributed to the rapid discovery of XLID genes and identifying novel mutations in known XLID genes for many of these syndromes.
METHODS: 2 NGS approaches were employed to identify mutations in X linked genes in families with XLID disorders. 1 involved exome sequencing of genes on the X chromosome using the Agilent SureSelect Human X Chromosome Kit. The second approach was to conduct targeted NGS sequencing of 90 known XLID genes.
RESULTS: We identified the same mutation, a c.12928 G>C transversion in the HUWE1 gene, which gives rise to a p.G4310R missense mutation in 2 XLID disorders: Juberg-Marsidi syndrome (JMS) and Brooks syndrome. Although the original families with these disorders were considered separate entities, they indeed overlap clinically. A third family was also found to have a novel HUWE1 mutation.
CONCLUSIONS: As we identified a HUWE1 mutation in an affected male from the original family reported by Juberg and Marsidi, it is evident the syndrome does not result from a mutation in ATRX as reported in the literature. Additionally, our data indicate that JMS and Brooks syndromes are allelic having the same HUWE1 mutation.

PMID: 27130160 [PubMed - indexed for MEDLINE]

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A narrative review of texting as a visually-dependent cognitive-motor secondary task during locomotion

Publication date: February 2017
Source:Gait & Posture, Volume 52
Author(s): T. Krasovsky, P.L. Weiss, R. Kizony
Typing while walking is an example of people’s ability to interact with technology while engaged in real life activities. Indeed, an increasing number of studies have investigated the typing of text messages (texting) as a dual task during locomotion. The objective of this review is to (1) describe the task requirements of texting-while-walking, (2) evaluate the measurement and psychometric properties of texting as a dual task, and (3) formulate methodological recommendations for researchers who use and report on texting-while-walking. Twenty studies which used texting as a dual task during gait were identified via a literature search. The majority of these studies examined texting among young healthy adults and showed that, like other dual tasks, texting-while-walking caused decrements in both gait and texting performance. The cause of these decrements was most likely related to increased visual task requirements, task-dependent cognitive requirements and fine motor skills. Texting-while-walking gait measures were repeatable, but texting performance showed poor reliability which further depended on skill. Preliminary results show that texting-while-walking performance may discriminate between populations (e.g., young vs. older adults) but no studies have yet examined its predictive validity (e.g., for fall risk). In conclusion, texting-while-walking is an ecologically-valid dual task for locomotion which has become much more commonly used in recent years. As opposed to other secondary tasks such as subtraction by 7 or generating words, texting may challenge various cognitive, visual and sensorimotor domains depending on its content. This imposes task-specific methodological challenges on future research, which are discussed.



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Dynamic plantar pressure distribution, strength capacity and postural control after Lisfranc fracture-dislocation

Publication date: February 2017
Source:Gait & Posture, Volume 52
Author(s): Alexander T. Mehlhorn, Markus Walther, Tayfun Yilmaz, Lennart Gunst, Anja Hirschmüller, Norbert P. Südkamp, Hagen Schmal
Substantial progress has been made in the operative treatment of Lisfranc fractures, however, the prognosis remains poor. We hypothesized that Lisfranc injuries change the postural control and muscle strength of the lower limb. Both are suggested to correlate with the clinical outcome and quality of life.17 consecutive patients suffering from a Lisfranc fracture dislocation were registered, underwent open reduction and internal fixation and were followed-up for 50.5±25.7months (Mean±SDM). Biomechanical analysis of muscle strength capacities, postural control and plantar pressure distribution was assessed >6 month postoperatively. Results were correlated to clinical outcome (AOFAS, FFI, Pain, SF-36).The isokinetic assessment revealed a significant reduction in plantar flexor and dorsal extensor peak torque of the injured limb compared to the uninjured limb. The dorsal extensor peak torque thereby correlated well with clinical outcome. Altered postural control was evident by a significant reduction in unilateral stance time, from which we calculated a strong correlation between stance time and the isokinetic strength measurement. Plantar pressure measurements revealed a significant reduction in peak pressure under the midfoot and of Force-Time Integral beneath the second metatarsal.Sufficient rehabilitation is crucial to the clinical outcome following anatomical open reduction of Lisfranc fracture-dislocation. The present study supports a rehabilitation approach focussing on restoring proprioception and calf muscular strength including isometric exercises of the dorsal extensors.



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Hip mechanics underlie lower extremity power training-induced increase in old adults’ fast gait velocity: The Potsdam Gait Study (POGS)

Publication date: February 2017
Source:Gait & Posture, Volume 52
Author(s): Chantal M.I. Beijersbergen, Urs Granacher, Martijn Gäbler, Paul DeVita, Tibor Hortobágyi
BackgroundAging is associated with slowed gait and old compared with young adults generally walk with greater positive hip work (H1) and reduced positive ankle work (A2). The role of exercise interventions on old adults’ gait mechanics that underlie training-induced improvements in gait velocity is unclear. We examined the effects of lower extremity power training and detraining on old adults’ gait kinetics.MethodsAs part of the Potsdam Gait Study (POGS), healthy old adults completed a no-intervention control period (69.1±4.4yrs, n=14) or a power training program followed by detraining (72.9±5.4yrs, n=15). We measured isokinetic knee extensor and plantarflexor power and measured hip, knee and ankle kinetics at habitual, fast and standardized walking speeds.ResultsPower training significantly increased isokinetic knee extensor power (25%), plantarflexor power (43%), and fast gait velocity (5.9%). Gait mechanics underlying the improved fast gait velocity included increases in hip angular impulse (29%) and H1 work (37%) and no changes in positive knee (K2) and A2 work. Detraining further improved fast gait velocity (4.7%) with reductions in H1 (−35%), and increases in K2 (36%) and A2 (7%).ConclusionPower training increased fast gait velocity in healthy old adults by increasing the reliance on hip muscle function and thus further strengthened the age-related distal-to-proximal shift in muscle function.



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A narrative review of texting as a visually-dependent cognitive-motor secondary task during locomotion

Publication date: February 2017
Source:Gait & Posture, Volume 52
Author(s): T. Krasovsky, P.L. Weiss, R. Kizony
Typing while walking is an example of people’s ability to interact with technology while engaged in real life activities. Indeed, an increasing number of studies have investigated the typing of text messages (texting) as a dual task during locomotion. The objective of this review is to (1) describe the task requirements of texting-while-walking, (2) evaluate the measurement and psychometric properties of texting as a dual task, and (3) formulate methodological recommendations for researchers who use and report on texting-while-walking. Twenty studies which used texting as a dual task during gait were identified via a literature search. The majority of these studies examined texting among young healthy adults and showed that, like other dual tasks, texting-while-walking caused decrements in both gait and texting performance. The cause of these decrements was most likely related to increased visual task requirements, task-dependent cognitive requirements and fine motor skills. Texting-while-walking gait measures were repeatable, but texting performance showed poor reliability which further depended on skill. Preliminary results show that texting-while-walking performance may discriminate between populations (e.g., young vs. older adults) but no studies have yet examined its predictive validity (e.g., for fall risk). In conclusion, texting-while-walking is an ecologically-valid dual task for locomotion which has become much more commonly used in recent years. As opposed to other secondary tasks such as subtraction by 7 or generating words, texting may challenge various cognitive, visual and sensorimotor domains depending on its content. This imposes task-specific methodological challenges on future research, which are discussed.



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Dynamic plantar pressure distribution, strength capacity and postural control after Lisfranc fracture-dislocation

Publication date: February 2017
Source:Gait & Posture, Volume 52
Author(s): Alexander T. Mehlhorn, Markus Walther, Tayfun Yilmaz, Lennart Gunst, Anja Hirschmüller, Norbert P. Südkamp, Hagen Schmal
Substantial progress has been made in the operative treatment of Lisfranc fractures, however, the prognosis remains poor. We hypothesized that Lisfranc injuries change the postural control and muscle strength of the lower limb. Both are suggested to correlate with the clinical outcome and quality of life.17 consecutive patients suffering from a Lisfranc fracture dislocation were registered, underwent open reduction and internal fixation and were followed-up for 50.5±25.7months (Mean±SDM). Biomechanical analysis of muscle strength capacities, postural control and plantar pressure distribution was assessed >6 month postoperatively. Results were correlated to clinical outcome (AOFAS, FFI, Pain, SF-36).The isokinetic assessment revealed a significant reduction in plantar flexor and dorsal extensor peak torque of the injured limb compared to the uninjured limb. The dorsal extensor peak torque thereby correlated well with clinical outcome. Altered postural control was evident by a significant reduction in unilateral stance time, from which we calculated a strong correlation between stance time and the isokinetic strength measurement. Plantar pressure measurements revealed a significant reduction in peak pressure under the midfoot and of Force-Time Integral beneath the second metatarsal.Sufficient rehabilitation is crucial to the clinical outcome following anatomical open reduction of Lisfranc fracture-dislocation. The present study supports a rehabilitation approach focussing on restoring proprioception and calf muscular strength including isometric exercises of the dorsal extensors.



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via IFTTT

Hip mechanics underlie lower extremity power training-induced increase in old adults’ fast gait velocity: The Potsdam Gait Study (POGS)

Publication date: February 2017
Source:Gait & Posture, Volume 52
Author(s): Chantal M.I. Beijersbergen, Urs Granacher, Martijn Gäbler, Paul DeVita, Tibor Hortobágyi
BackgroundAging is associated with slowed gait and old compared with young adults generally walk with greater positive hip work (H1) and reduced positive ankle work (A2). The role of exercise interventions on old adults’ gait mechanics that underlie training-induced improvements in gait velocity is unclear. We examined the effects of lower extremity power training and detraining on old adults’ gait kinetics.MethodsAs part of the Potsdam Gait Study (POGS), healthy old adults completed a no-intervention control period (69.1±4.4yrs, n=14) or a power training program followed by detraining (72.9±5.4yrs, n=15). We measured isokinetic knee extensor and plantarflexor power and measured hip, knee and ankle kinetics at habitual, fast and standardized walking speeds.ResultsPower training significantly increased isokinetic knee extensor power (25%), plantarflexor power (43%), and fast gait velocity (5.9%). Gait mechanics underlying the improved fast gait velocity included increases in hip angular impulse (29%) and H1 work (37%) and no changes in positive knee (K2) and A2 work. Detraining further improved fast gait velocity (4.7%) with reductions in H1 (−35%), and increases in K2 (36%) and A2 (7%).ConclusionPower training increased fast gait velocity in healthy old adults by increasing the reliance on hip muscle function and thus further strengthened the age-related distal-to-proximal shift in muscle function.



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