Development and feasibility of a modified Fugl-Meyer lower extremity assessment for telerehabilitation: a pilot study

Background The majority of stroke survivors experience motor impairment which benefits from rehabilitation treatment. Telerehabilitation, remote delivery of rehabilitation services, is a possible solution providing access to rehabilitation for stroke survivors living in rural areas or in situations like the COVID-19 pandemic where face-to-face treatment may be risky. However, valid and reliable motor impairment measures have not yet been established over a telerehabilitation platform. The Fugl-Meyer (FM) lower extremity assessment is widely used clinically and in research. Thus, the aim was to develop a modified FM for telerehabilitation (FM-tele) and assess the feasibility and preliminary agreement of FM-tele scores with the FM. Methods Three phases were employed: phase 1 development, phase 2 feasibility, and phase 3 preliminary agreement. Literature review and consultation with clinicians were employed to develop the FM-tele. Community-dwelling individuals with stroke and FM evaluators were consulted to provide feedback via questionnaires on the feasibility of the FM-tele. To assess the preliminary agreement of the FM-tele, individuals with stroke participated in two sessions, one in-person and one via telerehabilitation. The standard version of the FM was administered during the in-person session. The FM-tele was administered in both sessions. Results From phase 1, clinician consultation identified the following key principles: safety of the client, clear lower extremity visualization, and minimization of position changes which guided FM-tele development (n = 7). Feasibility was established in phase 2 where participants with stroke indicated that they felt safe and experienced ease following the standardized instructions, despite some technological concerns (n = 5). FM evaluators agreed that participants were safe and indicated effective standardized instructions. Phase 3 (n = 5) indicated preliminary agreement of the FM-tele compared with the FM. Conclusions Participants with stroke and clinical consultation indicated the FM-tele developed for telerehabilitation is feasible. A lower extremity motor assessment tool for telerehabilitation is urgently needed for stroke survivors living in rural areas or when face-to-face visits are impossible. This pilot study provides preliminary support for a future study.Medicine, Faculty ofNon UBCReviewedFacultyResearche

Transcatheter Aortic Valve Replacement: Comparing Transfemoral, Transcarotid, and Transcaval Access

BACKGROUND: Despite newer-generation valves using smaller-sized sheaths, 10% to 20% of patients undergoing transcatheter aortic valve replacement (TAVR) require nonfemoral artery access for valve delivery. To avoid a transthoracic procedure, we have used transcarotid (TC) and transcaval (TCav) approaches in these patients. This study compared the results of a contemporary experience with transfemoral (TF), TC, and TCav approaches. METHODS: Between January 2015 and March 2017, 491 patients underwent TAVR at our institution, of which 463 were included in this analysis. Valve delivery was TF in 373 patients, TCav in 58, and TC in 32. Patient characteristics and outcomes, including 1-year survival, were compared. RESULTS: Preoperative demographics and postoperative outcomes were similar for the three groups with several exceptions. TCav patients had higher The Society of Thoracic Surgeons risk score than TF patients (8.0 ± 5.2 vs 6.1 ± 4.3, p = 0.004). Lung disease, cerebrovascular disease, and peripheral vascular disease were more common in TC and TCav patients. Median length of stay was 2 days for TF, 3 days for TC, and 4 days for TCav (TF vs TCav, p = 0.001). Procedural mortality, percentage discharged home, and the 30-day readmission rate were similar for all. Unadjusted Kaplan-Meier survival was also similar at 1 year (TF, 86%; TC, 83%; TCav, 80%). CONCLUSIONS: Patients unsuitable for TF TAVR treated with TC or TCav access had 30-day/in-hospital and 1-year survival similar to a contemporary cohort undergoing TF access. Avoiding surgical entry to the chest may offer procedural and intermediate-term outcomes equivalent to TF TAVR

BFA 2017-2018 Senior Show Catalog

Exhibition catalog for December 2017 and Spring 2018 Bachelor of Fine Arts (B.F.A.) thesis exhibitions in the Earl & Virginia Green Art Gallery at Biola University. In Particular - photography - Emily Hayashida; Cross Over Move Into - photography - Marika Adamopoulos; In progress - photography - Shelby Montelongo; have a dream and have a job and - photography - Jordan Wilson; One Thing at a Time Frankie - drawing & painting - Kat Ashdown; How\u27s Your Family? - Interdisciplinary - Janna Christian; Transept - drawing & painting - Rebecca Mott; Mr. Pareidolia - Interdisciplinary - Delanie Eng; Mojo - Interdisciplinary - Trevor Lunde; Gas Bill - drawing & painting - Michelle Parada; Exactly Not It - Interdisciplinary - Amanda Delaplane; I’ll Be There for You Sometimes - Interdisciplinary - Brianna Eng; Recovered - drawing & painting - Laura Webster; Embody - drawing & painting - Wesleigh Byrd; More Accidentally on Purpose - Interdisciplinary - Lisa Tixier; The Darkness He Called Night - drawing & painting - Kaila Williams; Invitation - sculpture - Kibbi Peng; Dynamo Genesis - design - Tony Walsh; Ambient - design - Chad Swanson; December Eleventh - Interdisciplinary - Jeddiah Angkasa; Side Eye - design - Sean Leone;https://digitalcommons.biola.edu/exhibit-catalogs/1000/thumbnail.jp

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism. org, a dynamic platform that is engaging thousands of individuals with autism spectrum disorder (ASD) and connecting them to researchers. By making all data accessible, SPARK seeks to increase our understanding of ASD and accelerate new supports and treatments for ASD

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11 variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11 variants and document the nature of the variants.We present a cohort of six probands with de novo and inherited nonsense/frameshift (4/6 patients) and missense (2/6) variants in GDF11. We generated gdf11 mutant zebrafish to model loss of gdf11 phenotypes and used an overexpression screen in Drosophila to test variant functionality.Patients with variants in GDF11 presented with craniofacial (5/6), vertebral (5/6), neurological (6/6), visual (4/6), cardiac (3/6), auditory (3/6), and connective tissue abnormalities (3/6). gdf11 mutant zebrafish show craniofacial abnormalities and body segmentation defects that match some patient phenotypes. Expression of the patients’ variants in the fly showed that one nonsense variant in GDF11 is a severe loss-of-function (LOF) allele whereas the missense variants in our cohort are partial LOF variants.GDF11 is needed for human development, particularly neuronal development, and LOF GDF11 alleles can affect the development of numerous organs and tissues

Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Purpose We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1B gene, which encodes the R1 beta subunit of the cyclic AMP-dependent protein kinase A (PKA). Methods Variants of PRKAR1B were identified by single- or trio-exome analysis. We contacted the families and physicians of the six individuals to collect phenotypic information, performed in vitro analyses of the identified PRKAR1B-variants, and investigated PRKAR1B expression during embryonic development. Results Recent studies of large patient cohorts with neurodevelopmental disorders found significant enrichment of de novo missense variants in PRKAR1B. In our cohort, de novo origin of the PRKAR1B variants could be confirmed in five of six individuals, and four carried the same heterozygous de novo variant c.1003C>T (p.Arg335Trp; NM_001164760). Global developmental delay, autism spectrum disorder, and apraxia/dyspraxia have been reported in all six, and reduced pain sensitivity was found in three individuals carrying the c.1003C>T variant. PRKAR1B expression in the brain was demonstrated during human embryonal development. Additionally, in vitro analyses revealed altered basal PKA activity in cells transfected with variant-harboring PRKAR1B expression constructs. Conclusion Our study provides strong evidence for a PRKAR1B-related neurodevelopmental disorder

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected