Patient-led use of patient-reported outcome measure in self-Management of a Rotator Cuff Injury.

Introduction: The patient is the person who experiences both the processes and the outcomes of care. Information held by the patient is vital for clinical and self-management, improving health outcomes, delivery of care, organization of health systems, and formulation of health policies. Patient-reported outcome measures (PROMs) play an important role in supporting patient's self-management.

Health-related quality of life in prenatal diagnosis.

The objectives of this review include the conceptualization of the health-related quality of life effects of prenatal diagnosis and a brief summary of evidence on the short- and long-term effects of prenatal diagnosis on the health-related quality of life effects associated with chorionic villi sampling and genetic amniocentesis and the identification of important unresolved issues. Although this is not a systematic review, it is an update of published research on the utility approach to assessing the health-related quality of life in prenatal diagnosis. It is based on a search of publications by investigators known to be active in the area and a hand search of selected specialized journals.

Maternal cell contamination of amniotic fluid samples obtained by open needle versus trocar technique of amniocentesis.

Objective: To determine the incidence of maternal cell contamination (MCC) in the open-needle amniocentesis sampling technique compared with the trocar-in-place technique.

Methods: A retrospective analysis was conducted on 2,498 mid-trimester amniocenteses performed in two tertiary care centres in Canada. The University of Alberta centre used the open-needle (without the trocar) technique and the University of British Columbia centre used the standard (with the trocar in place) technique.

Health-related quality-of-life assessment of prenatal diagnosis: chorionic villi sampling and amniocentesis.

This study assesses the health-related quality-of-life (HRQL) effects of chorionic villi sampling (CVS) and genetic amniocentesis (GA), including both process and outcomes of prenatal diagnosis. The HRQL of 126 women participating in a randomized controlled clinical trial of CVS versus GA in Toronto and Hamilton, Ontario, was assessed in four interviews at weeks 8, 13, 18, and 22 of pregnancy. Statistical analyses included analysis of variance, repeated measures analysis of covariance, chi-square, Fisher's exact test, Student's t-tests, and paired t-tests.

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.

A 46,X,r(X) karyotype was found in a three and a half year old girl with short stature, facial dysmorphism and developmental delay. The clinical findings were consistent with the phenotype described in a limited number of patients with small ring X chromosomes lacking the XIST locus, a critical player in the process of X chromosome inactivation. Surprisingly, in our patient, fluorescent in situ hybridisation demonstrated that the XIST locus was present on the ring X.