A randomized prospective trial of an ostomy telehealth intervention for cancer survivors.

Background: Cancer survivors with ostomies face complex challenges. This study compared the Ostomy Self-Management Telehealth program (OSMT) versus attention control usual care (UC).

Methods: Three academic centers randomized participants.

Racial and Ethnic Disparity in Preference-Weighted Quality of Life: Findings from the Selenium and Vitamin E Cancer Prevention Trial.

Differences in preference-weighted health-related quality of life (HRQOL) scores by race/ethnicity may be due to social factors. Here, Short-Form Six-Dimension (SF-6D) scores are analyzed among men in a prostate cancer prevention trial to explore such differences. Selenium and vitamin E cancer prevention trial participants who completed the SF-6D at baseline, and in at least 1 of follow-up years 1, 3, and 5 were included.

Adapting to the burdens of care: a telehealth program for cancer survivors with ostomies.

Purpose: An ostomy introduces to cancer survivors new demands for self-care and healthcare resource use. A curriculum that teaches ostomates self-management skills may affect survivors' use of resources.

Methods: A prospective randomized trial comparing usual care (UC) with an Ostomy Self-Management Training (OSMT) program delivered by telehealth was conducted in patients with ostomies due to cancer.

Clinical and Demographic Differences Among Cancer Survivors With Ostomies With and Without Informal Caregivers.

Informal caregivers have an essential role for cancer survivors (CS). There may be important clinical and demographic differences between CS with ostomies based on caregiver status. Our aim was to identify items that may lead to future recommendations and interventions for CS with ostomies.

Programmatic Costs of the Telehealth Ostomy Self-Management Training: An Application of Time-Driven Activity-Based Costing.

Objectives: Programmatic cost assessment of novel clinical interventions can inform their widespread dissemination and implementation. This study aimed to determine the programmatic costs of a telehealth Ostomy Self-Management Training (OSMT) intervention for cancer survivors using Time-Driven Activity-Based Costing (TDABC) methodology.

Methods: We demonstrated a step-by-step application of TDABC based on a process map with core OSMT intervention activities and associated procedures and determined resource use and costs, per unit procedure.

Neural crest cell-specific inactivation of Nipbl or Mau2 during mouse development results in a late onset of craniofacial defects.

Nipbl (Scc2) and Mau2 (Scc4) encode evolutionary conserved proteins that play a vital role for loading the cohesin complex onto chromosomes, thereby ensuring accurate chromosome segregation during cell division. While mutations in human NIPBL are known to cause the developmental disorder Cornelia de Lange syndrome, the functions of Nipbl and Mau2 in mammalian development are poorly defined. Here we generated conditional alleles for both genes in mice and show that neural crest cell-specific inactivation of Nipbl or Mau2 strongly affects craniofacial development.

Cartilage oligomeric matrix protein promotes cell attachment via two independent mechanisms involving CD47 and alphaVbeta3 integrin.

Cartilage oligomeric matrix protein (COMP) is a pentameric approximately 524 kDa multidomain extracellular matrix protein and is the fifth member of the thrombospondin family. COMP is abundantly expressed in proliferating and hypertrophic chondrocytes of the growth plate, articular cartilage, synovium, tendon, and ligament. The spatial localization of COMP highlights its importance in the phenotypes of pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), COMP disorders that are characterized by disproportionate short stature, brachydactyly, scoliosis, early-onset osteoarthritis, and joint hypermobility.

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

The brachyolmias constitute a clinically and genetically heterogeneous group of skeletal dysplasias characterized by a short trunk, scoliosis and mild short stature. Here, we identify a locus for an autosomal dominant form of brachyolmia on chromosome 12q24.1-12q24.

Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Spondylocarpotarsal synostosis syndrome (SCT) is an autosomal recessive disease that is characterized by short stature, and fusions of the vertebrae and carpal and tarsal bones. SCT results from homozygosity or compound heterozygosity for nonsense mutations in FLNB. FLNB encodes filamin B, a multifunctional cytoplasmic protein that plays a critical role in skeletal development.

Homotypic fibrillin-1 interactions in microfibril assembly.

We have defined the homotypic interactions of fibrillin-1 to obtain new insights into microfibril assembly. Dose-dependent saturable high affinity binding was demonstrated between N-terminal fragments, between furin processed C-terminal fragments, and between these N- and C-terminal fragments. The N terminus also interacted with a downstream fragment.

Molecular basis of elastic fiber formation. Critical interactions and a tropoelastin-fibrillin-1 cross-link.

We have investigated the molecular basis of elastic fiber formation on fibrillin microfibrils. Binding assays revealed high affinity calcium-independent binding of two overlapping fibrillin-1 fragments (encoded by central exons 18-25 and 24-30) to tropoelastin, which, in microfibrils, map to an exposed "arms" feature adjacent to the beads. A further binding site within an adjacent fragment (encoded by exons 9-17) was within an eight-cysteine motif designated TB2 (encoded by exons 16 and 17).

Immunohistochemical detection and distribution of prion protein in a goat with natural scrapie.

Formalin-fixed, paraffin-embedded tissue sections from a 3-year-old female Angora goat suffering from clinical scrapie were immunostained after hydrated autoclaving using a monoclonal antibody (mAb, F99/97.6.1; IgG1) specific for a conserved epitope on the prion protein.

Microfibril-associated glycoprotein-2 interacts with fibrillin-1 and fibrillin-2 suggesting a role for MAGP-2 in elastic fiber assembly.

Elastic fibers are composed of the protein elastin and a network of 10-12 nm microfibrils. The microfibrillar proteins include, among others, the fibrillins and microfibril-associated glycoproteins-1 and -2 (MAGP-1 and MAGP-2). Little is known about how microfibrillar proteins interact to support fiber assembly.

Fibrillin: from microfibril assembly to biomechanical function.

Fibrillins form the structural framework of a unique and essential class of extracellular microfibrils that endow dynamic connective tissues with long-range elasticity. Their biological importance is emphasized by the linkage of fibrillin mutations to Marfan syndrome and related connective tissue disorders, which are associated with severe cardiovascular, ocular and skeletal defects. These microfibrils have a complex ultrastructure and it has proved a major challenge both to define their structural organization and to relate it to their biological function.