29 research outputs found
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
No full textDonnai-Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4-bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild-type LRP2 alleles. This is the first case of DBS/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorder
Description of common musculoskeletal findings in Williams Syndrome and implications for therapies
No full textHypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome
No full textWhole exome sequencing detected novel likely pathogenic variants in LRP2 gene in 2 patients presenting with hearing and vision loss, and the Dent disease (DD) classical renal phenotype, that is, low molecular weight proteinuria (LMWP), hypercalciuria and nephrocalcinosis/nephrolithiasis. We propose that a subset of patients presenting as DD may represent unrecognized cases or mild forms of Donnai-Barrow/facio-oculo-acustico-renal (DB/FOAR) syndrome or be on the phenotypic continuum between the 2 conditions
Visually guided step descent in children with Williams syndrome
No full textIndividuals with Williams syndrome (WS) have impairments in visuospatial tasks and in manual visuomotor control, consistent with parietal and cerebellar abnormalities. Here we examined whether individuals with WS also have difficulties in visually controlling whole-body movements. We investigated visual control of stepping down at a change of level in children with WS (5–16-year-olds), who descended a single step while their movement was kinematically recorded. On each trial step height was set unpredictably, so that visual information was necessary to perceive the step depth and position the legs appropriately before landing. Kinematic measures established that children with WS did not use visual information to slow the leg at an appropriate point during the step. This pattern contrasts with that observed in typically developing 3- and 4-year-old children, implying severe impairment in whole-body visuomotor control in WS. For children with WS, performance was not significantly predicted by lowlevel visual or balance problems, but improved significantly with verbal age. The results suggest some plasticity and development in WS whole-body control. These data clearly show that visuospatial and visuomotor deficits in WS extend to the locomotor domain. Taken together with evidence for parietal and cerebellar abnormalities in WS, these results also provide new evidence for the role of these circuits in the visual control of whole-body movement
Author Correction: SRF SUMOylation modulates smooth muscle phenotypic switch and vascular remodeling
No full textPrimed T Cell Responses to Chemokines Are Regulated by the Immunoglobulin-Like Molecule CD31
No full textPMCID: PMC3378580This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Improving patients’ home cooking – A case series of participation in a remote culinary coaching program
No full textThis case series describes and examines the outcomes of a remote culinary coaching program, aimed at improving nutrition through home cooking. Participants (n=4) improved attitudes about the perceived ease of home cooking (pThe accepted manuscript in pdf format is listed with the files at the bottom of this page. The presentation of the authors' names and (or) special characters in the title of the manuscript may differ slightly between what is listed on this page and what is listed in the pdf file of the accepted manuscript; that in the pdf file of the accepted manuscript is what was submitted by the author
Author Correction: A ZFYVE21-Rubicon-RNF34 signaling complex promotes endosome-associated inflammasome activity in endothelial cells
No full textThe effect of veneering technique on the failure load of In-Ceram YZ zirconia based all-ceramic crowns
No full textPLEASE NOTE: This work is protected by copyright. Downloading is restricted to the BU community: please log in with a valid BU account to access and click Download. If you are the author of this work and would like to make it publicly available, please contact [email protected] (MSD) --Boston University, Henry M. Goldman School of Dental Medicine, 2012 (Department of Restorative Sciences and Biomaterials).Includes bibliographic references: leaves 122-127.Statement of the problem: Zirconia based bi-layered restorations can be affected by the strength and homogeneity of the structure of the weakest part (the veneering porcelain). The combination of a CAD/CAM-fabricated framework with CAD/CAM-fabricated veneering would be of major interest to improve the strength and fracture resistance of all-ceramic restorations, especially if stronger veneering ceramics can be applied. However, to date in most cases, veneering material is hand layered.
Objectives: To evaluate the failure load of zirconia based all-ceramic crowns veneered with a CAD/CAM generated high-strength veneering porcelain. Interfacial bonding methods included two different cements and fusion porcelain; Compare the bond strength of CAD/CAM based all-ceramic crown systems to crowns fabricated by traditional hand layering technique. Evaluate the effect of thermocycling on the failure load of these crowns and evaluate their failure modes.
Materials and Methods: Standardized acrylic dies with 2 mm, 360 degree shoulder preparations (Pober Industries, Waban, MA, USA) were used in this in-vitro study. 48 zirconia copings were produced and divided into eight groups. In the first and second groups (cemented, and cemented + themocycled, n=6 each) CAD/CAM fabricated high-strength anatomically shaped porcelain veneers (VITA VM9) were cemented onto zirconia copings using conventional cement (Rely X Luting GI). In the third and fourth groups (bonded, and bonded + thermocycled, n=6 each) CAD/CAM fabricated porcelain veneers (VITA VM9) were bonded to zirconia copings using resin cement (Multilink Automix). In the fifth and sixth groups (sintered, and sintered + thermocycled, n=6 each) CAD/CAM-fabricated porcelain veneers (VITA VM9) were fused to the zirconia copings using fusion porcelain (VITA VM9). In the seventh and eighth groups (hand layered, and hand layered + thermocycled, n=6 each) zirconia copings received conventional veneering using a layering technique with VITA VM9 porcelain.
All crowns were conventionally cemented onto their dies using resin cement. Half the groups were tested directly in a universal testing machine until failure and the other half were thermal cycled and then tested. The fracture load data were compared by a one-way analysis of variance and a multiple comparison posthoc test (alpha=0.05).
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