Collaborative Therapist-Patient Decision Making: A Power-Based Exercise Program for an Adolescent With CMT1A.

PURPOSE: The purpose of this case report is to describe an episode of care for an adolescent with Charcot Marie Tooth disease (CMT) using a power-based progressive resistance exercise (PRE) and balance program to improve performance of participant-defined goals with added description through the voice of the patient as "participant lived experience." SUMMARY OF KEY POINTS: Participant discussion demonstrates improvement of functional performance for an adolescent with CMT subtype 1A (CMT1A), a progressive neuromuscular disorder. Function and participation-specific movement observation, clinical evaluation, and resistance training fostered appropriate program design and intervention dosing. CONCLUSIONS AND RECOMMENDATIONS FOR CLINICAL PRACTICE: A power-based progressive resistance exercise and balance program with design based on participant-defined goals was feasible, well tolerated, and successful for an adolescent with CMT1A. Inclusion of viewpoints of the "lived experience" provides deeper insight into patient perspective and clinical outcomes. Outcomes may improve when intervention is specifically dosed to participant goals and individual muscle performance requirements for targeted tasks.

Genome Sequence of the Halophilic Bacterium Kangiella spongicola ATCC BAA-2076T.

The Gram-negative genus Kangiella contains a number of halophilic species that display high levels of iso-branched fatty acids. Kangiella spongicola was isolated from a marine sponge, Chondrilla nucula, from the Florida Keys in the United States. A genome assembly of 2,825,399 bp with a 44.31% G+C content was generated from strain A79T (=ATCC BAA-2076T).

Draft Genome Sequence of the Psychrotolerant Bacterium Kurthia sibirica ATCC 49154T.

The aerobic, Gram-positive, psychrotolerant bacterium Kurthia sibirica was first isolated from the stomach and intestinal contents of the Magadan mammoth recovered from the permafrost in eastern Siberia in 1977. K. sibirica was sequenced, and the predicted genome size is 3,496,665 bp, with 36.42% G+C content.

Motor Function Test Reliability During the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study.

BACKGROUND: The NeuroNEXT SMA Infant Biomarker Study, a two year, longitudinal, multi-center study of infants with SMA type 1 and healthy infants, presented a unique opportunity to assess multi-site rater reliability on three infant motor function tests (MFTs) commonly used to assess infants with SMA type 1. OBJECTIVE: To determine the effect of prospective MFT rater training and the effect of rater experience on inter-rater and intra-rater reliability for the Test of Infant Motor Performance Screening Items (TIMPSI), the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) and the Alberta Infant Motor Scale (AIMS). METHODS: Training was conducted utilizing a novel set of motor function test (MFT) videos to optimize accurate MFT administration and reliability for the study duration. Inter- and intra-rater reliability of scoring for the TIMPSI and inter-rater reliability of scoring for the CHOP INTEND and the AIMS was assessed using intraclass correlation coefficients (ICC). Effect of rater experience on reliability was examined using ICC. Agreement with 'expert' consensus scores was examined using Pearson's correlation coefficients. RESULTS: Inter-rater reliability on all MFTs was good to excellent. Intra-rater reliability for the primary MFT, the TIMPSI, was excellent for the study duration. Agreement with 'expert' consensus was within predetermined limits (≥85%) after training. Evaluator experience with SMA and MFTs did not affect reliability. CONCLUSIONS: Reliability of scores across evaluators was demonstrated for all three study MFTs and scores were reproducible on repeated administration. Evaluator experience had no effect on reliability.

Randomized Trial of Lower Extremity Splinting to Manage Neuropathic Pain and Sleep Disturbances in People Living with HIV/AIDS.

BACKGROUND/AIMS: Distal symmetrical peripheral neuropathy (DSPN) and sleep disturbances are among the most common complications reported in people living with the human immunodeficiency virus infection and acquired immunodeficiency syndrome (PLWHA). DSPN-pain is predominantly managed by using systemic agents with little evidence supporting their analgesic efficacy. The purpose of this study is to evaluate the effect of nighttime lower extremity splinting application on DSPN-related pain and sleep disturbances compared to a parallel splint liner application in PLWHA. METHODS: Forty-six PLWHA and DSPN were randomized to nighttime wearing of bilateral lower extremity splints or the liners only. Pain and sleep outcomes were measured at baseline, week 3, and week 6. The pain was measured using the Neuropathic Pain Scale and sleep using the Pittsburgh Sleep Quality Index. RESULTS: Pain and sleep scores improved in both groups over time. The median percentage pain reduction at week 6 was 8% in the liner group and 34% in the splint group. The change in pain scores in the splint group was found to be significant over time, P < .0005. The contrast between the splint and liner groups was underpowered (26%) and was not found to be significant, P > .05. Sleep scores improved 20% from baseline to the end of the study in both groups; all participants were classified as poor sleepers. CONCLUSION: The 6-week use of nighttime splints reduces DSPN-pain possibly by providing peripheral inhibition of external stimuli. Future studies are needed to validate this inhibitory intervention to manage DSPN in PLWHA and other neuropathic conditions.

Pain, sleep disturbances, and functional limitations in people living with HIV/AIDS-associated distal sensory peripheral neuropathy.

BACKGROUND: Pain, sleep, and functional disturbances are a common occurrence in people living with HIV/AIDS-related distal sensory peripheral neuropathy (PLWHA-DSPN) yet lack group classification and quantification. METHODS: A total of 46 PLWHA-DSPN were recruited, as part of a 2-group intervention study, to complete the Neuropathic Pain Scale and the Pittsburgh Sleep Quality Index (PSQI) questionnaires. The participant's performance during a forward reach task and walking distance in 6 minutes was recorded as a measure of function. RESULTS: The pain (60.77 +/- 17.85) and sleep (14.62 +/- 4.28) scores denote marked pain and sleep disturbances, compared to seronegative, age-matched individuals. The ambulation distance was limited (243.99 +/- 141.04 m) and inversely associated with the PSQI-sleep efficiency subscale (rs = -.35, P < .05). The average reaching distances measured (36.07 +/- 7.37 cm) were similar to seronegative, age-matched individuals. Pain, sleep, and functional measures exhibited significant associations. CONCLUSIONS: The data collected suggest that PLWHA-DSPN report moderate-to-severe pain and significant sleep disturbances and exhibit limited ambulation distances.

Home-based psychoeducational and mailed information programs for stroke-caregiving dyads post-discharge: a randomized trial.

PURPOSE: This randomized trial compared 6- and 12-month outcomes of a home-based psychoeducational program to mailed information provided to 159 survivors of stroke (SS) and their spousal caregivers (CG). METHODS: SS (age 50+) and CG were recruited as dyads post-discharge from inpatient rehabilitation. All dyads received mailed information for 12 months. Dyads randomized to the home-based group received an average of 36.7 h of psychoeducation over 6 months. Health status, depression, stress, burden, coping, support, mutuality and function were obtained on all dyads. Repeated measures analysis with linear mixed models was used to compare the groups for change over time in the outcome variables. RESULTS: Both groups demonstrated less depression and stress over time. Compared to the mailed information group, SS in the home-based group demonstrated significantly improved self-reported health and cognitive function; CG demonstrated significantly improved self-reported health and coping strategies. Mutuality and social support decreased in both groups. CONCLUSIONS: The home-based intervention was effective in improving self-reported health, coping skills in CG and cognitive functioning in SS. However, the finding that dyads in both groups demonstrated decreased depression and stress suggests that providing repeated doses of relevant, personalized information by mail may result in positive changes. IMPLICATIONS FOR REHABILITATION: A stroke affects both the stroke survivor and the spousal caregiver, so nurses and therapists should use multicomponent strategies to provide education, support, counseling and linkages to community resources to ease the transition from hospital to home. Stroke may have a negative impact on the dyad's relationship with each other and also on the availability of support people in their lives during the 12 months after hospital discharge. Comprehensive stroke programs should encourage dyads to attend support groups and to seek individual and group counseling, as needed. Establishing an ongoing relationship with stroke survivors and their spouses and providing relevant and engaging information by mail can reduce stress and depression over 12 months post-discharge at a minimal cost. Nurses and therapists should consider home visits post-discharge to reinforce education and skills taught in the hospital, increase self-reported health in stroke survivors and spousal CG, increase coping skills and to link the couple to community resources.

Pain, sleep disturbances, and functional limitations in people living with HIV/AIDS-associated distal sensory peripheral neuropathy.

BACKGROUND: Pain, sleep, and functional disturbances are a common occurrence in people living with HIV/AIDS-related distal sensory peripheral neuropathy (PLWHA-DSPN) yet lack group classification and quantification. METHODS: A total of 46 PLWHA-DSPN were recruited, as part of a 2-group intervention study, to complete the Neuropathic Pain Scale and the Pittsburgh Sleep Quality Index (PSQI) questionnaires. The participant's performance during a forward reach task and walking distance in 6 minutes was recorded as a measure of function. RESULTS: The pain (60.77 +/- 17.85) and sleep (14.62 +/- 4.28) scores denote marked pain and sleep disturbances, compared to seronegative, age-matched individuals. The ambulation distance was limited (243.99 +/- 141.04 m) and inversely associated with the PSQI-sleep efficiency subscale (rs = -.35, P < .05). The average reaching distances measured (36.07 +/- 7.37 cm) were similar to seronegative, age-matched individuals. Pain, sleep, and functional measures exhibited significant associations. CONCLUSIONS: The data collected suggest that PLWHA-DSPN report moderate-to-severe pain and significant sleep disturbances and exhibit limited ambulation distances.

Over-ground and robotic-assisted locomotor training in adults with chronic stroke: a blinded randomized clinical trial.

PURPOSE: The purpose was to compare the effectiveness of robotic-assisted body weight supported treadmill training using the Lokomat(®) to over-ground gait training (OGT) in adults with chronic stroke. METHODS: Participants were randomly assigned to the Lokomat(®) or OGT interventions. Both protocols included 40 sessions over 8 weeks. Primary outcome measures were the 10-meter walk test and 6-minute walk distance. Secondary measures included the Functional Independence Measure(TM) locomotion score, Fugl-Meyer Lower Extremity Motor Score (FM-LE), Barthel Index, and Stroke Impact Scale. Blinded assessors tested the participants at baseline, post-intervention, and 3-month follow-up. RESULTS: Eleven Lokomat(®) and nine OGT participants completed the study. Within group differences in the FM-LE score and Barthel Index occurred over time from baseline to post-intervention and baseline to 3-month follow-up. No other within group differences and no between group differences were observed. CONCLUSIONS: Although walking measures did not show significant changes between groups, LE motor function and physical functional levels improved over time within both groups. The Lokomat(®) may allow aggressive locomotor training, particularly for the lower functioning patients who wish to improve walking ability due to apparent eased therapist physical burden, when compared to OGT, although an increased risk of skin breakdown is present.

Management of skin-related adverse events during locomotor training with robotic-assisted body weight supported treadmill: A case report.

The purpose of this case report is to describe attempts to prevent skin-related adverse events from occurring and protect the skin once breakdown occurred in a person with chronic stroke during locomotor training. There is scant literature in how to address skin during locomotor training with the Lokomat(®), particularly when a patient presents with sensory deficits and frail skin. The patient was a 75-year-old male survivor of stroke who participated in the Lokomat(®) group of a randomized clinical pilot study comparing locomotor training with the Lokomat(®) and conventional means. He had diminished sensation to light touch and proprioception on his left leg with skin on both lower legs presenting as thin, flaky, and virtually hairless. Although much effort was put towards prevention of skin breakdown, he developed numerous skin-related adverse events during his training. However, his skin healed completely with reduced training intensity and initiation of "pre-wrapping" his lower legs with Akton(®) viscoelastic polymer sheets and elastic bandages. Significant improvements were noted in his Functional Improvement Measure(™) locomotion score and Stroke Impact Scale domains of strength, participation/role function, and total recovery, though not in his 10-m walk test velocity or 6-min walk test. The Akton(®) sheets and team approach between study team, patient, and his wife allowed simultaneous safe continuation of locomotor training with the Lokomat(®) and healing of his skin breakdown.

Evidence-based educational guidelines for stroke survivors after discharge home.

Stroke survivors today are discharged home from the hospital more quickly than in the past because of shifting economic realities. Survivors continue to experience significant impairments after discharge and families may be poorly prepared for the full extent of caregiving responsibilities. This article describes 39 comprehensive educational guidelines that have been tested with 72 stroke survivors and families during 1,150 home visits throughout the first 6 months after discharge from inpatient rehabilitation. Two case studies illustrate use of the guidelines with stroke survivors and their families.

Lower extremity passive range of motion in community-ambulating stroke survivors.

BACKGROUND: Physical therapists may prescribe stretching exercises for individuals with stroke to improve joint integrity and to reduce the risk of secondary musculoskeletal impairment. While deficits in passive range of motion (PROM) exist in stroke survivors with severe hemiparesis and spasticity, the extent to which impaired lower extremity PROM occurs in community-ambulating stroke survivors remains unclear. This study compared lower extremity PROM in able-bodied individuals and independent community-ambulatory stroke survivors with residual stroke-related neuromuscular impairments. Our hypothesis was that the stroke group would show decreased lower extremity PROM in the paretic but not the nonparetic side and that decreased PROM would be associated with increased muscle stiffness and decreased muscle length. METHODS: Individuals with chronic poststroke hemiparesis who reported the ability to ambulate independently in the community (n = 17) and age-matched control subjects (n = 15) participated. PROM during slow (5 degrees/sec) hip extension, hip flexion, and ankle dorsiflexion was examined bilaterally using a dynamometer that measured joint position and torque. The maximum angular position of the joint (ANGmax), torque required to achieve ANGmax (Tmax), and mean joint stiffness (K) were measured. Comparisons were made between able-bodied and paretic and able-bodied and nonparetic limbs. RESULTS: Contrary to our expectations, between-group differences in ANGmax were observed only during hip extension in which ANGmax was greater bilaterally in people post-stroke compared to control subjects (P

Neuron-restricted expression of the rat gonadotropin-releasing hormone gene is conferred by a cell-specific protein complex that binds repeated CAATT elements.

GnRH gene expression is restricted to a tiny population of neurons scattered throughout the mediobasal hypothalamus. The combination of a 300-bp enhancer and the 173-bp promoter from the rat GnRH gene can confer this narrow specificity in transgenic mice and in transfections of hypothalamic GT1-7 cells. In the present study, we identify repeated CAATT elements in the 3' region of the rat GnRH enhancer that bind a tissue-restricted protein complex and play a significant role in cell-restricted expression of the GnRH gene. Deletions of multiple repeats demonstrate their importance in transcriptional activity. In fact, even mutation of a single repeat reduces expression. This reduction can be compensated by the conserved GnRH promoter, which also contains such elements and binds this protein complex. In Southwestern analysis, three proteins from GT1-7 nuclear extract bind to the CAATT element, and these proteins are not found in NIH3T3 cells. This cell-specific protein complex has properties of the Q50 homeodomain family of transcription factors and binds to as many as seven binding sites in the enhancer and promoter to play a key role in GnRH gene expression in the hypothalamus.