A Novel Recurrent COL5A1 Genetic Variant Is Associated With a Dysplasia-Associated Arterial Disease Exhibiting Dissections and Fibromuscular Dysplasia.

OBJECTIVE: While rare variants in the COL5A1 gene have been associated with classical Ehlers-Danlos syndrome and rarely with arterial dissections, recurrent variants in COL5A1 underlying a systemic arteriopathy have not been described. Monogenic forms of multifocal fibromuscular dysplasia (mFMD) have not been previously defined. Approach and Results: We studied 4 independent probands with the COL5A1 pathogenic variant c.1540G>A, p.(Gly514Ser) who presented with arterial aneurysms, dissections, tortuosity, and mFMD affecting multiple arteries. Arterial medial fibroplasia and smooth muscle cell disorganization were confirmed histologically. The COL5A1 c.1540G>A variant is predicted to be pathogenic in silico and absent in gnomAD. The c.1540G>A variant is on a shared 160.1 kb haplotype with 0.4% frequency in Europeans. Furthermore, exome sequencing data from a cohort of 264 individuals with mFMD were examined for COL5A1 variants. In this mFMD cohort, COL5A1 c.1540G>A and 6 additional relatively rare COL5A1 variants predicted to be deleterious in silico were identified and were associated with arterial dissections (P=0.005). CONCLUSIONS: COL5A1 c.1540G>A is the first recurring variant recognized to be associated with arterial dissections and mFMD. This variant presents with a phenotype reminiscent of vascular Ehlers-Danlos syndrome. A shared haplotype among probands supports the existence of a common founder. Relatively rare COL5A1 genetic variants predicted to be deleterious by in silico analysis were identified in ≈2.7% of mFMD cases, and as they were enriched in patients with arterial dissections, may act as disease modifiers. Molecular testing for COL5A1 should be considered in patients with a phenotype overlapping with vascular Ehlers-Danlos syndrome and mFMD.

Gas in the inferior vena cava from severe emphysematous pyelonephritis.

Emphysematous pyelonephritis is a life-threatening, urologic emergency. We present the case of a 54-yearold female who was found to have a large volume of air in her renal vein and inferior vena cava from severe emphysematous pyelonephritis. In this case report, the medical and operative management of this patient are reviewed, and the literature on the management of emphysematous pyelonephritis is summarized.

Construct validity of the family impact of assistive technology scale for augmentative and alternative communication.

The Family Impact of Assistive Technology Scale for Augmentative and Alternative Communication (FIATS-AAC) measures parent-reported functioning and factors that affect functioning in children who use AAC. The aim of the current study was to assess its construct validity. For the study, 47 parents of children with AAC needs completed the FIATS-AAC and two other parent-reported questionnaires: a child quality-of-life measure and a community participation measure. An interview was also conducted with a sub-set of six parents. The FIATS-AAC showed a significant correlation with the child quality-of-life measure, but no significant associations with the community participation measure. Interviews suggested some consistency between parents' perceptions of their child's communicative functioning after comparing their FIATS-AAC scores and interview responses. This study provides evidence for the emerging construct validity of the FIATS-AAC as a measure linked to psychosocial aspects of quality-of-life in children with AAC needs between the ages of 6- and 12-years.

Responsiveness of a parent-reported outcome measure to evaluate AAC interventions for children and youth with complex communication needs.

Evaluation of the effectiveness of augmentative and alternative communication (AAC) interventions requires reliable measures that are responsive to change. The aim of this study was to explore the potential of the Family Impact of Assistive Technology Scale for AAC (FIATS-AAC) to detect functional change in children and youth with AAC needs, aged 3-17 years, and their families, 6 and 12 weeks after receiving a graphic-based, speech-generating device (SGD). Parents whose children were awaiting a SGD as part of their regular AAC service participated in the study. In all, 45 parents completed the FIATS-AAC during each of three phone interviews: at the time of device delivery, and then 6 weeks and 12 weeks after receiving the device. Children and youth were aged 3-16 years (M = 7.8, SD = 3.3) and were mostly context-dependent communicators. Paired t-tests indicated statistically significant gains in functioning from baseline to both 6 and 12 weeks after receiving the AAC device. Effect sizes were 0.41 and 0.38, respectively. This study provides initial support for the ability of the FIATS-AAC to detect functional changes in children and youth and their families after receiving a graphic-based SGD.

Lessons learned from studying the functional impact of adaptive seating interventions for children with cerebral palsy.

Little empirical evidence exists about the effectiveness of assistive technology interventions for children with cerebral palsy (CP) to inform clinical practice. This article reviews what we know about the functional impact of adaptive seating interventions - a common assistive technology type recommended for children with CP. A contemporary assistive technology outcomes framework is considered as a way to model the temporality and measure the effects of seating interventions and moderating cofactors. Three research studies are profiled to illustrate different research methods, measurement approaches, and follow-up periods to learn about adaptive seating outcomes. Recommendations for future research include the adoption of common measurement indicators, consideration of quality assessment criteria, and the use of varied methodologies to generate new knowledge about functional outcomes. It is suggested that the proposed strategies will lead to new understandings, clinical applications, and ultimately improvements in the everyday lives of children with CP and their families.

Measuring Participation for Children and Youth With Power Mobility Needs: A Systematic Review of Potential Health Measurement Tools.

OBJECTIVES: To identify and critically appraise potential participation measurement tools for children aged 18 months to 17 years with power mobility (PM) needs. DATA SOURCES: Searches in 9 electronic databases identified peer-reviewed publications in English to January 2015, along with hand-searching included bibliographies. STUDY SELECTION: The Preferred Reporting Items for Systematic reviews and Meta-Analyses statement was followed with inclusion criteria set a priori. Keywords and subject headings included participation and measurement terms with descriptors of young people who are potential PM candidates. Publications describing measurement properties of English-language tools were included if the items included ≥ 85% content related to participation and described at least 2 participation dimensions. DATA EXTRACTION: Two reviewers reached consensus after independently screening titles and abstracts, identifying full-text articles meeting criteria, extracting data, and conducting quality ratings. Tool descriptions, clinical utility, and measurement properties were extracted. Study quality and measurement properties were evaluated using the COnsensus-based Standards for the selection of health Measurement INstruments checklist and the McMaster Outcome Measures Rating Form. DATA SYNTHESIS: Of 1330 titles identified, 138 peer-reviewed publications met study inclusion criteria. Fifty tools were identified, of which 20 met inclusion criteria. Evidence supporting reliability and validity varied considerably. Two tools had responsiveness evidence, an important measurement property when evaluating change. Quality ratings were strongest for internal consistency and content validity. Ratings were downgraded because of small sample sizes and a limited description of missing data or study conditions. CONCLUSIONS: While potential tools emerged (Assessment of Preschool Children's Participation, Preferences for Activities of Children, Child and Adolescent Scale of Participation, Child Engagement in Daily Life, Canadian Occupational Performance Measure, Questionnaire of Young People's Participation), none were judged best suited for use with children having PM needs. Further empirical studies with this population are needed before recommending use for PM applications.

Randomized Trial Comparing the Primary Patency following Cutting Versus High-Pressure Balloon Angioplasty for Treatment of de Novo Venous Stenoses in Hemodialysis Arteriovenous Fistulae.

PURPOSE: A single-center randomized clinical trial was performed to compare postinterventional primary patency rates achieved by cutting balloon angioplasty and high-pressure balloon angioplasty in the treatment of de novo stenoses within autogenous arteriovenous (AV) fistulae for hemodialysis. MATERIALS AND METHODS: Forty-eight patients undergoing their first angioplasty were prospectively randomized to undergo angioplasty with a cutting balloon or high-pressure balloon 4-8 mm in diameter because cutting balloons larger than 8 mm are not available. Nine patients were excluded after angiography, with seven requiring balloons larger than 8 mm. In the remaining 39 patients, there were 42 stenoses in the following regions: juxtaanastomotic (38%), perianstomotic (38%), midcephalic (9%), and cephalic arch (14%). Patients in the cutting balloon group were younger (mean age difference, 9 y; P = .04), but other demographic variables were comparable (range, P = .08-.89). The mean follow-up period was 8.5 mo (range, 24 d to 32 mo). Kaplan-Meier analysis was used to compare duration of patency. Mann-Whitney rank-sum t test and χ2/Fisher exact tests were used to compare continuous and categoric variables, respectively. RESULTS: Technical success was achieved in all 39 patients. At 3, 6, and 12 months, the postinterventional primary patency rates for the cutting balloon group were 61.1% (95% confidence interval [CI], 35.75%-82.70%), 27.7% (95% CI, 9.69%-53.48%), and 11.1% (95% CI, 1.38%-34.71%), respectively, compared with 70.0% (95% CI, 45.72%-88.11%), 42.1% (95% CI, 20.25%-66.50%), and 26.3% (95% CI, 9.15%-51.20%), respectively, for the high-pressure balloon group (P < .3 at each interval). CONCLUSIONS: Compared with high-pressure balloon angioplasty, cutting balloon angioplasty does not improve postinterventional primary patency of de novo stenotic lesions in autogenous arteriovenous fistulae.

Important elements of measuring participation for children who need or use power mobility: a modified Delphi survey.

AIM: To identify and reach consensus on important elements of measuring participation in everyday life for children who need or use power mobility. METHOD: A panel (n=74) of parents, therapists, and researchers with pediatric power mobility and participation expertise completed an online modified Delphi survey. Three rounds determined important elements of participation for two groups: early childhood (18mo-5y) and school-aged (6-12y). 'Elements of participation' defined the 'who, what, where, and how' of measuring participation, generated from a literature review and participants' suggestions. Consensus was set a priori as ≥80% agreement. RESULTS: Consensus was reached on 21 out of 48 elements of participation important to measure for our population: eight elements for the younger group and 18 elements for the older group. When ranked by importance, four of the top five elements were common across both age groups. INTERPRETATION: For children using power mobility, measuring participation in a variety of settings is critical, along with considering both the child's and family's participation. Evaluating child engagement and enjoyment of participation are priorities, as is measuring barriers and facilitators. For school-aged children, evaluating child and parent reports of participation are essential. These elements can guide tool selection and/or development.

Towards Advancing Knowledge Translation of AAC Outcomes Research for Children and Youth with Complex Communication Needs.

The production of new knowledge in augmentative and alternative communication (AAC) requires effective processes to leverage the different perspectives of researchers and knowledge users and improve prospects for utilization in clinical settings. This article describes the motivation, planning, process, and outcomes for a novel knowledge translation workshop designed to influence future directions for AAC outcomes research for children with complex communication needs. Invited knowledge users from 20 pediatric AAC clinics and researchers engaged in the collaborative development of research questions using a framework designed for the AAC field. The event yielded recommendations for research and development priorities that extend from the early development of language, communication, and literacy skills in very young children, to novel but unproven strategies that may advance outcomes in transitioning to adulthood.

Externalization of tunneled hemodialysis catheter in patients with tunnel or exit-site infections and limited access options.

PURPOSE: To evaluate the viability and effectiveness of temporary externalization of a tunneled hemodialysis (HD) catheter in catheter-dependent HD patients presenting with catheter-related tunnel or exit-site infection, documented central venous stenosis, and limited alternative venous access. MATERIALS AND METHODS: All catheter-dependent HD patients with known central venous stenosis presenting with exit-site or tunnel infection and who subsequently underwent catheter externalization between February 2008 and May 2012 were reviewed. After catheter externalization, patients were concurrently treated with antibiotics for approximately 3 weeks before reinsertion of a new tunneled catheter. Treatment outcomes were collected, with treatment failures defined as reinfection with the same organism within 45 days of tunneled catheter reinsertion. RESULTS: There were 42 catheter externalization procedures performed in 26 patients for 42 exit-site or tunnel infections. Technical success rate for catheter externalization was 100%, with no complications during the externalization procedure and preservation of all original access sites. Treatment failure occurred in 9.8% (4 of 41) of cases. Median infection-free survival after treatment and retunneling of a new dialysis catheter was 80 days. One major periprocedural complication of death occurred before reinsertion of a new tunneled catheter. Minor complications after the procedure occurred in four patients and included three cases of a small persistent wound at the temporary supraclavicular access site and one initially nonfunctioning externalized catheter. CONCLUSIONS: Temporary dialysis catheter externalization appears both technically feasible and effective for the treatment of exit-site and tunnel infections, while allowing preservation of the venous access site in catheter-dependent HD patients with central venous stenosis and limited alternative venous access.

Functional outcomes associated with adaptive seating interventions in children and youth with wheeled mobility needs.

OBJECTIVE: To determine the parent-reported functional outcomes associated with adaptive seating devices for wheeled mobility devices used by young people aged 1 to 17 years. DESIGN: Longitudinal case series. SETTING: Homes of participating parents. PARTICIPANTS: Parents (N=70, 63 mothers, 6 fathers, 1 grandmother) who had children with adaptive seating needs. INTERVENTION: Adaptive seating system for wheeled mobility devices. MAIN OUTCOME MEASURE: Family Impact of Assistive Technology Scale for Adaptive Seating (FIATS-AS). RESULTS: All parents completed the FIATS-AS 4 times-2 times before and 2 times after their child received a new adaptive seating system. Mixed-design analysis of variance did not detect significant mean differences among the FIATS-AS scores measured at baseline and 2 and 8 months after receiving the seating system (F2,134=.22, P=.81). However, the FIATS-AS detected a significant interaction between age cohort and interview time (F4,134=4.5, P<.001, partial η(2)=.16). Post hoc testing confirmed that 8 months after receiving the seating system was associated with a large improvement in child and family functioning for children <4 years, maintenance of functioning for children between 4 and 12 years, and a moderate decline in functioning for youth between 13 and 17 years. CONCLUSIONS: Adaptive seating interventions for wheeled mobility devices are associated with functional changes in the lives of children and their families that interact inversely with age. Future controlled longitudinal studies could provide further empirical evidence of functional changes in the lives of children and their families after the introduction and long-term use of specific adaptive seating interventions.

Functional impact of augmentative and alternative communication scale: development of an outcome measure for educators of students with complex communication needs.

PURPOSE: The study aim was to develop and assess the measurement properties of the Functional Impact of Augmentative and Alternative Communication - Educator (FIAAC-E) scale - an educator-reported measure designed to detect change in factors associated with communicative participation in students who use augmentative and alternative communication (AAC). METHODS: The study had three phases. In phase 1 (content validity), 22 content specialists independently rated the relevancy of 22 dimensions proposed for the new scale. In phase 2 (item generation, face validity), 8 educators independently completed a preliminary version of the FIAAC-E scale and flagged items that were unclear. Next, these educators adjusted the wording of unclear items during consensus-building sessions. In phase 3 (item reduction, reliability, convergent validity), 62 educators completed an online survey that included the revised FIAAC-E scale. Survey data were used to shorten the scale, estimate its reliability, and evaluate support for its convergent validity. RESULTS: In phase 1, the 11 dimensions ranked most highly by content specialists were selected for inclusion in the preliminary scale. In phase 2, educators reviewed 113 items and revised 33 to improve clarity. In phase 3, correlational statistics informed the selection of 77 items for the shortened scale. Subsequent data analyses indicated acceptable levels of internal consistency and test-retest reliability and support for convergent validity of the preliminary measure. CONCLUSION: The study provides emerging evidence that supports the FIAAC-E scale as a reliable way to evaluate communicative participation in children and youth who use AAC systems at school.Implications for rehabilitationUsing a reliable means to measure the effectiveness of AAC for children and youth at school may reveal important factors that influence successful communicative, academic, and social participation in school.The FIAAC-E scale is a promising educator-reported questionnaire to inform the development of communication goals and monitor progress towards meeting these goals for students with complex communication needs.

Endoluminal dilation technique to remove "stuck" tunneled hemodialysis catheters.

Most tunneled catheters can be easily removed after the retention cuff is dissected. Occasionally, these catheters can become resistant to removal even after application of potentially hazardous forceful traction. In addition, an infected catheter may cause life-threatening septicemia. Several methods have been described for their extraction, some of which may be available only in tertiary-care facilities. The present report describes the successful extraction of five such "stuck" catheters by using a recently described technique of endoluminal dilation. The technique appears safe and straightforward and can be performed in any interventional suite while allowing preservation of venous access.

Improved strength of early versus late supraspinatus tendon repair: a study in the rabbit.

HYPOTHESIS: The optimal timing for surgical repair of the supraspinatus (SSP) tendon after full-substance tear has not been established. The objectives of this prospective investigation of SSP tendon repair delayed by 1, 2, or 3 months followed by a 3-month postoperative course were to (1) determine the site of failure, (2) measure the tensile strength and stiffness, and (3) assess the ability of computed tomography to predict mechanical strength. MATERIALS AND METHODS: We transected 1 SSP tendon in 36 rabbits and then repaired it with transosseous sutures after a delay of 1, 2, or 3 months. We compared the results with 36 intact shoulders from 18 age-matched control rabbits. RESULTS: Experimental specimens failed at the tendon (n = 26) more often than at the enthesis (n = 10) (P < .05). The mean peak loads to failure 3 months after repair delayed by 1 month and delayed by 2 months were significantly greater than their respective control values (P < .05 for both); there was no difference after a delay of 3 months. There was no association between the presence of hypoattenuation on computed tomography and repair strength (P > .05). CONCLUSIONS: Our findings indicate better mechanical results with earlier repair (1 or 2 months) after SSP tendon than after a delay of 3 months. Early surgical repair may lower the risk of tendon retear.

Family impact of assistive technology scale: development of a measurement scale for parents of children with complex communication needs.

Young people use augmentative and alternative communication (AAC) systems to meet their everyday communication needs. However, the successful integration of an AAC system into a child's life requires strong commitment and continuous support from parents and other family members. This article describes the development and evaluation of the Family Impact of Assistive Technology Scale for AAC Systems - a parent-report questionnaire intended to detect the impact of AAC systems on the lives of children with complex communication needs and their families. The study involved 179 parents and clinical experts to test the content and face validities of the questionnaire, demonstrate its internal reliability and stability over time, and estimate its convergent construct validity when compared to a standardized measure of family impact.

Evaluation of the multidimensional effects of adaptive seating interventions for young children with non-ambulatory cerebral palsy.

PURPOSE: To investigate the short-term effectiveness of the first adaptive seating system received by children with non-ambulatory cerebral palsy (CP) who are classified as level IV or V according to the Gross Motor Function Classification System. MATERIALS AND METHODS: A trained clinical assessor examined 20 children with non-ambulatory CP (mean age: 4.5 years) for their trunk control ability in static, active, and reactive tasks using the Segmental Assessment of Trunk Control. Their primary caregivers were also interviewed about their child's activity and participation using the Paediatric Evaluation of Disability Inventory Computer - Adaptive Test in daily activity and social/cognitive domains and Family Impact of Assistive Technology Scale for Adaptive Seating in child and family functioning domains. Data for each measure were collected 3 times: at baseline (pre-intervention) and then 6 weeks and 3 months after children received their first adaptive seating system. RESULTS AND CONCLUSION: The static and active trunk control scores between baseline and 6 weeks, and baseline and 3 months significantly improved. Daily activity scaled scores significantly improved between baseline and 3 months, and 6 weeks and 3 months. Significant, large gains in child and family functioning overall were detected between baseline and 6 weeks, and baseline and 3 months. These findings provide emerging evidence of multidimensional effects associated with the introduction of a first adaptive seating system into the lives of young children with non-ambulatory CPIMPLICATIONS FOR REHABILITATIONThe introduction of an adaptive seating system into the wheelchair of children with non-ambulatory cerebral palsy may be associated with short-term gains in body function, activities, participation and aspects of the child's environment.

Extra- and intramuscular fat accumulation early after rabbit supraspinatus tendon division: depiction with CT.

PURPOSE: To quantify the accumulation, progression, and distribution of fat separately in and around the supraspinatus muscle from the onset of tendon detachment and to validate computed tomography (CT) for quantification of fat content by using volumetry and histomorphometry as reference standards. MATERIALS AND METHODS: Institutional animal care committee approval was obtained. The supraspinatus tendon of 30 adult female rabbits (3.0 kg) was detached. Rabbits were sacrificed in groups of 10 after 4, 8, and 12 weeks. Fifteen rabbits that did not undergo surgery served as control subjects. Fat accumulations in and around the proximal, middle, and distal supraspinatus muscle were quantified, volumetrically and histologically, and were compared with extramuscular presence and intramuscular attenuation at CT. Weight, volume, histologic findings, and CT determinations of fat were compared by using one-way analysis of variance. The Pearson test was used to correlate intramuscular fat accumulation with CT observations. RESULTS: Four weeks after tendon detachment significant extra- and intramuscular fat had accumulated (both P < .05) and progressed during 12 weeks, with accumulation of extramuscular fat being three times greater than that of intramuscular fat (both P < .05). An increasing proximal-to-distal gradient existed for both extra- and intramuscular accumulation (both P < .05). CT depicted the onset, progression, and gradient of extra- and intramuscular fat accumulation (all P < .05). CT attenuation correlated strongly with histologic findings (P < .05). CONCLUSION: Fat accumulated early, along an increasing proximal-to-distal gradient, and progressed with time after supraspinatus tendon detachment. CT proved to be a valid tool for monitoring the onset, progression, and gradient separately for extra- and intramuscular fat accumulation.

Randomised controlled trial comparing two school furniture configurations in the printing performance of young children with cerebral palsy.

AIM: This randomised controlled trial compared the same-session effects of two different school furniture configurations on printing legibility. METHODS: A total of 30 school-age children with ambulatory cerebral palsy participated in this study. Each child provided one near-point printing sample of up to 34 letters while positioned on Mandal-type specialty school furniture and on standard school furniture. An assessor who was unaware of the intervention assignment scored printing errors. RESULTS: No significant difference in legibility score mean values between the interventions was detected and the effect size was small. CONCLUSIONS: Compared with standard school furniture, the use of specialty school furniture did not lead to immediate gains in printing legibility and other printing performance areas for children with cerebral palsy. Further study of the influence of functional abilities, other contextual factors and the longer-term use of school furniture on handwriting performance is recommended.

Endarterectomy of carotid artery bifurcation in the setting of a persistent hypoglossal artery and anomalous collateral vascular supply.

Presented is a patient with carotid artery stenosis resulting in crescendo anterior and posterior circulation transient ischemic attacks. Treatment was complicated by a rare persistent hypoglossal artery (HGA) arising from the left internal carotid artery in addition to severe contralateral carotid disease, hypoplastic vertebral arteries, and incomplete circle of Willis. A carotid endarterectomy with shunting was performed, maintaining perfusion of both the proper left internal carotid artery and HGA. This is a rare case of carotid stenosis in the setting of a persistent HGA with contralateral carotid disease and highlights the importance of planning intracranial perfusion before carotid surgery.

Toward greater involvement of youth with complex communication needs in the selection of augmentative and alternative communication devices.

Purpose: The study aim was to examine the measurement properties of the Youth Evaluation of Products Scale for Augmentative and Alternative Communication (YEP-AAC) as a means to understand the product attitudes of youth toward their AAC devices.Methods: In study 1, four males and two females between the ages of 8 and 17 years (median age = 14 years) participated in face-to-face interviews. A researcher administered the YEP-AAC and then asked youths to explain the rationale for their item ratings. Two researchers analyzed masked transcripts of the interviews to predict the valence of item ratings assigned by youths. In study 2, 18 families participated in a mailed survey to examine the reliability and validity of the scale domains. Seventeen mothers/one father and their children (9 male/9 female) between the ages of 10 and 20 years participated (median age = 16 years).Results: The level of chance-corrected agreement between valences converted from youth ratings on the YEP-AAC and those assigned by researchers was fair (weighted kappa = 0.38). Internal consistencies of the scale domains were acceptable. Youths who rated their AAC devices more favourably had higher functional communication as hypothesized.Conclusion: The two studies provide support for the face validity, internal consistency and convergent validity of the YEP-AAC as a measure of the product attitudes of youth with complex communication needs.Implications for rehabilitationDeveloping reliable ways to understand the product needs, preferences and values of youth with complex communication needs will help to support the selection, acquisition and use of augmentative and alternative communication (AAC) devices.Consumer socialization helps to explain how youth may acquire the skills, knowledge and experience relevant to their role as AAC consumers.Reliable youth-report questionnaires that are grounded in consumer socialization provide an expedient way to understand the product attitudes of young consumers with complex communication needs.