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Network propagation is based on the principle that genes underlying similar phenotypes are more likely to interact with each other. It is proving to be a powerful approach for extracting biological information from molecular networks that is relevant to human disease.
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KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c.628C>T; p.Arg210Cys) in KCNQ2. Four family members, three adults and a child, presented with a childhood seizure onset with variability in the severity of seizures and response to treatment, intellectual disability (ID) as well as behavioral problems. The two youngest affected patients had a variable degree of global developmental delay with no seizures at their current age. This three-generation family with six affected members expands the phenotypic spectrum of KCNQ2 associated encephalopathy to KCNQ2 associated ID and or childhood onset epileptic encephalopathy. We think that KCNQ2 associated epileptic encephalopathy should be included in the differential diagnosis of childhood onset epilepsy and early onset global developmental delay, cognitive dysfunction, or ID. Furthermore, whole exome sequencing in families with ID and history of autosomal dominant inheritance pattern with or without seizures, may further broaden the phenotypic spectrum of KCNQ2 associated epileptic encephalopathy or encephalopathy.
Publication date: Available online 10 June 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Harshvardhan Singh, Ozell Sanders, Sandy McCombe Waller, Woei-Nan Bair, Brock Beamer, Robert A. Creath, Mark W. Rogers
ObjectiveTo determine and compare gait speed during head-forward and side-to-side head-turn walking in individuals with lower versus greater lateral balance.DesignCross-sectional studySettingUniversity research laboratoryParticipantsNinety-three older adults (42 men and 51 women) aged 73 ± 6.08 years who could walk independently participated in this study.Main Outcome Measures1) 'balance tolerance limit' (BTL), defined as the lowest perturbation intensity where a multistep balance recovery pattern was first evoked in response to randomized lateral waist-pull perturbations of standing balance to the left and right sides, at six different intensities (range from level two: 4.5 cm displacement at 180cm/s2 acceleration to level seven: 22.5 cm displacement at 900cm/s2 acceleration), 2) gait speed, 3) balance, and 4) mobility using an instrumented gait mat, Timed-Up-and-Go (TUG) and Activities-Specific Confidence (ABC) scale, respectively.ResultsIndividuals with low versus high BTL had slower self-selected head-forward gait speed (HFGS) and head-turn gait speed (HTGS) (p = 0.002 and p < 0.001, respectively); the magnitude of difference was greater in HTGS than HFGS (Cohen's d = 1.0 versus 0.6). HTGS best predicted BTL. BTL was moderately and positively related (p = 0.003) to the ABC and negatively related (p = 0.017) to TUG.ConclusionsHTGS is affected to a greater extent than HFGS in older individuals with poorer lateral balance and at greater risk of falls. Moreover, HTGS can be used to assess the interactions of limitations in lateral balance function and gait speed in relation to fall risk in older adults.
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Publication date: Available online 10 June 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Ping He, Chao Guo, Yanan Luo, Xu Wen, JM Ian Salas, Gong Chen, Xiaoying Zheng
ObjectiveTo investigate trends in rehabilitation services use in children and adolescents with intellectual disabilities and to explore factors potentially contributing to the trends.DesignA population-based study using a multistage, randomized, cluster sampling process to ascertain participants in 2006, and a sub-sample was selected for follow-up surveys from 2007 to 2013.Setting31 provinces of China.ParticipantsChildren aged 0-17 years with intellectual disabilities were followed up for 7 years, with a total of 5,432 samples.InterventionsNot applicable.Main Outcome MeasuresThe outcome variable was whether individuals received at least one of rehabilitation services (occupational, physical, and speech or communication therapy) in the past 12 months.ResultsOverall, the utilization rates of rehabilitation services significantly increased from 14.4% in 2007 to 37.1% in 2013; and the trends were also significant in children aged 0-10 and 11-17 years, in males and females, and in rural participants. From 2007 to 2013, rehabilitation services utilization increased at an annual rate of 22.39% (95% CI: 18.11%, 26.82%) in the total sample. The rise was only significant in rural rather than urban individuals, resulting in the urban-rural gap in rehabilitation services use being narrowed. However, the minorities and those without health insurance still received fewer rehabilitation services than their respective counterparts.ConclusionsThere were upward trends in rehabilitation services use in participants over time, and the urban-rural gap was narrowed. However, there were still socioeconomic differences, in the form of ethnicity and health insurance, on rehabilitation services use among children and adolescents with intellectual disabilities.
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Publication date: Available online 10 June 2017
Source:Archives of Physical Medicine and Rehabilitation
Author(s): Yosuke Yoshida, Koki Ikuno, Koji Shomoto
ObjectiveTo compare sensory-level neuromuscular electrical stimulation (sNMES) and conventional motor- level neuromuscular electrical stimulation (mNMSE ) in patients after total knee arthroplasty (TKA).DesignA prospective randomized single-blind trial.SettingA hospital total arthroplasty center: inpatients.ParticipantsPatients with osteoarthritis (N=66, 85% women, mean age 73.5±6.3y) were randomized to receive either sNMES applied to the quadriceps (the sNMES group), mNMES (the mNMES group), or no stimulation (the Control group) in addition to a standard rehabilitation program.InterventionsEach type of NMES was applied in 45 minute sessions, 5days/week, for 2 weeks.Main Outcome MeasuresData for the quadriceps maximum voluntary isometric contraction (MVIC), the leg skeletal muscle mass determined using multiple frequency bioelectrical impedance analysis, the Timed Up and Go test, the 2-Minute Walk Test (2MWT), the visual analogue scale, and the range-of-motion of the knee were measured preoperative and at 2 and 4 weeks after TKA.ResultsThe mNMES (P = 0.001) and sNMES groups (P = 0.028) achieved better MVIC results than the Control group. The mNMES (P = 0.003) and sNMES groups (P = 0.046) achieved better 2MWT results than the Control group. Some patients in the mNMES group dropped out of the experiment due to discomfort.ConclusionThe mNMES significantly improved the muscle strength and functional performance more than the standard program alone. The mNMES was uncomfortable for some patients. The sNMES was comfortable and improved muscle strength and functional performance more than the standard program alone.
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