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. This narrative describes a patient-led use of a PROM to self-manage after a rotator cuff injury. METHODS: This is a narrative of a patient who tore the supraspinatus tendon in her right shoulder in an accident. The Disabilities of the Arm, Shoulder and Hand, the DASH questionnaire, was used to monitor and self-manage recovery after the accident. The DASH questionnaire is a self-reported questionnaire that measures the difficulty in performing upper extremity activities and pain in the arm, shoulder or hand. It has been widely used in research studies, but here the patient initiated its use for self-management while waiting for and after rotator cuff surgery. The patient created separate sub-scale scores for function and for pain to answer questions from healthcare providers about her recovery. RESULTS: There was noticeable improvement over 3 months of conservative treatment, from a high level of disability of 56 to 39 (score changed 17); however, the scores were nowhere near the general population normative score of 10.1. Surgery improved the score from 39 pre-surgery to 28. Post-surgical interventions included physiotherapy, pain management and platelet-riched plasma treatment (PRP). The score was 14 4 weeks post-PRP. CONCLUSIONS: The patient found the DASH useful in monitoring recovery from a rotator cuff injury (before and after surgery). The DASH contributed to communication with healthcare professionals and supported the clinical management. The DASH questionnaire was able to capture the patient's experience with the injury and surgical recovery, corroborating an improvement in function while there was persistent post-surgical pain.

Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.

Roberts syndrome (RS) is a developmental disorder characterized by tetraphocomelia and a broad spectrum of additional clinical features. Most patients with RS exhibit characteristic cytogenetic phenotypes, which include an abnormal appearance of pericentromeric heterochromatin on metaphase chromosomes, referred to as "heterochromatic repulsion." In the present study, we use complementation of this abnormal cytogenetic phenotype as a means to identify a specific region of the normal human genome capable of rendering phenotypic correction. We screened the entire human genome, using a transient chromosome-transfer assay, and demonstrated complementation exclusively after the transfer of proximal chromosome 8p, a result subsequently confirmed by stable microcell-mediated chromosome transfer. Additionally, homozygosity mapping was used to refine the interval of this complementing locus to 8p21. The results are consistent with the notion that the single gene defect responsible for heterochromatic splaying and developmental abnormalities maps to chromosome 8p21.

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. Utility scores for patients undergoing CVS exceeded those for GA patients at week 18 (p = 0.04). Utility scores for hypothetical health states did not differ significantly by trial arm. CVS results in slightly improved HRQL during prenatal diagnosis. This advantage needs to be weighed against the high disutility patients attach to infrequent outcomes associated with pregnancy losses, equivocal diagnoses, and diagnostic inaccuracy.