The genetic epidemiology of joint shape and the development of osteoarthritis

Congruent, low-friction relative movement between the articulating elements of a synovial joint is an essential pre-requisite for sustained, efficient, function. Where disorders of joint formation or maintenance exist, mechanical overloading and osteoarthritis (OA) follow. The heritable component of OA accounts for ~ 50% of susceptible risk. Although almost 100 genetic risk loci for OA have now been identified, and the epidemiological relationship between joint development, joint shape and osteoarthritis is well established, we still have only a limited understanding of the contribution that genetic variation makes to joint shape and how this modulates OA risk. In this article, a brief overview of synovial joint development and its genetic regulation is followed by a review of current knowledge on the genetic epidemiology of established joint shape disorders and common shape variation. A summary of current genetic epidemiology of OA is also given, together with current evidence on the genetic overlap between shape variation and OA. Finally, the established genetic risk loci for both joint shape and osteoarthritis are discussed

Holistic Communication Assessment for Young Children With Cleft Palate Using the International Classification of Functioning, Disability and Health:Children and Youth

Purpose Children with a cleft palate (± cleft lip; CP±L) can have difficulties communicating and participating in daily life, yet speech-language pathologists typically focus on speech production during routine assessments. The International Classification of Functioning, Disability and Health: Children and Youth Version (ICF-CY; World Health Organization, 2007) provides a framework for holistic assessment. This tutorial describes holistic assessment of children with CP±L illustrated by data collected from a nonclinical sample of seven 2- to 3-year-old children, 13 parents, and 12 significant others (e.g., educators and grandparents). Method Data were collected during visits to participants' homes and early childhood education and care centers. Assessment tools applicable to domains of the ICF-CY were used to collect and analyze data. Child participants' Body Functions including speech, language, and cognitive development were assessed using screening and standardized assessments. Participants' Body Structures were assessed via oral motor examination, case history questionnaires, and observation. Participants' Activities and Participation as well as Environmental and Personal Factors were examined through case history questionnaires, interviews with significant others, parent report measures, and observations. Results Valuable insights can be gained from undertaking holistic speech-language pathology assessments with children with CP±L. Using multiple tools allowed for triangulation of data and privileging different viewpoints, to better understand the children and their contexts. Several children demonstrated speech error patterns outside of what are considered cleft speech characteristics, which underscores the importance of a broader assessment. Conclusion Speech-language pathologists can consider incorporating evaluation of all components and contextual factors of the ICF-CY when assessing and working with young children with CP±L to inform intervention and management practices

Modeling Organic Contaminant Partitioning in Ground-Water Systems

Effective management of a ground-water system requires description and prediction of the transport and fate of contaminants in that system. This can be facilitated by using mathematical models which accurately represent the physical phenomena operative in the system. One of the most significant phenomena impacting the transport of many organic pollutants is partitioning between the solid (soil) and aqueous (ground-water) phases. The tendency of a contaminant to partition may be roughly approximated from measurements of such constitutive properties as the octanol: water partition coefficient of the contaminant and organic carbon content of the soil. Such rough approximations provide a basis for cursory appraisal, but are inadequate for quantitative system descriptions, particularly where nonlinear equilibrium sorption, kinetically dependent partitioning, or irreversible and/or hysteretic phase distribution phenomena are operative. Accurate simulation of solute transport frequently requires the incorporation of kinetic parameters and/or a nonlinear isotherm relationship to define transport phenomena in the fundamental equations governing mass transport. Laboratory measurements may be utilized to assess sorptive factors of importance, kinetic properties of an organic solute and a soil system, and equilibrium partitioning relationships. Such measurements can be utilized to provide more accurate modeling of contaminant transport.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/65827/1/j.1745-6584.1984.tb01429.x.pd