Novel Genetic Determinants of Dental Maturation in Children.

Dental occlusion requires harmonious development of teeth, jaws, and other elements of the craniofacial complex, which are regulated by environmental and genetic factors. We performed the first genome-wide association study (GWAS) on dental development (DD) using the Demirjian radiographic method. Radiographic assessments from participants of the Generation R Study (primary study population, N1 = 2,793; mean age of 9.8 y) were correlated with ~30 million genetic variants while adjusting for age, sex, and genomic principal components (proxy for population stratification). Variants associated with DD at genome-wide significant level (P < 5 × 10-8) mapped to 16q12.2 (IRX5) (lead variant rs3922616, B = 0.16; P = 2.2 × 10-8). We used Fisher's combined probability tests weighted by sample size to perform a meta-analysis (N = 14,805) combining radiographic DD at a mean age of 9.8 y from Generation R with data from a previous GWAS (N2 = 12,012) on number of teeth (NT) in infants used as proxy of DD at a mean age of 9.8 y (including the ALSPAC and NFBC1966). This GWAS meta-analysis revealed 3 novel loci mapping to 7p15.3 (IGF2BP3: P = 3.2 × 10-8), 14q13.3 (PAX9: P = 1.9 × 10-8), and 16q12.2 (IRX5: P = 1.2 × 10-9) and validated 8 previously reported NT loci. A polygenic allele score constructed from these 11 loci was associated with radiographic DD in an independent Generation R set of children (N = 703; B = 0.05, P = 0.004). Furthermore, profiling of the identified genes across an atlas of murine and human stem cells observed expression in the cells involved in the formation of bone and/or dental tissues (>0.3 frequency per kilobase of transcript per million mapped reads), likely reflecting functional specialization. Our findings provide biological insight into the polygenic architecture of the pediatric dental maturation process.

Success factors of hospital information system implementation: what must go right?

Health care institutions are considering a variety of information technologies in the hope of increasing efficiency, reducing cost, re-engineering work processes, and improving quality of care. When we talk about any information system implementation, we need to keep in mind that there are actually three phases to such a project: pre-implementation, implementation and post-implementation. The aim of our contribution is to present the realities of successful implementation and our experience with such project.

The optimization of turnaround time for blood samples in an emergency clinical laboratory.

The University Medical Centre Ljublijana is a 3200-bed general hospital. A laboratory information system, developed to improve the reliability and usefulness of test results, was installed in the emergency laboratory in November 1994. At that time, all test requests received by the laboratory were treated as equally urgent, but in December 1994, a reorganisation took place, which involved the introduction of a priority system. We conducted a study in the period from November 1994 to September 1995. The turnaround time for blood analyses was evaluated by the method of case study. The influence of information technology and organisational changes on individual components of the turnaround time was assessed. This study has shown a positive effect of the recently introduced information technology and organisational changes on the turnaround time. The median turnaround time improved for all phases of the laboratory process. The greatest improvement occurred in validity check time.