Baseline Range of Motion, Strength, Motor Function, and Participation in Youth with Hutchinson-Gilford Progeria Syndrome.

Aims: Limited information is available on impairments, activity limitations and participation restrictions in youth with Hutchinson-Gilford progeria syndrome (HGPS), a rare genetic premature aging disease. The purposes were to: (1) describe range of motion (ROM), grip, pinch and quadriceps strength, functional balance, walking endurance, and gross motor limitations and participation restrictions; (2) evaluate the association between ROM impairments and age; and (3) evaluate the association between the Gross Motor Function Measure-88 (GMFM) scores and lower extremity (LE) ROM, quadriceps strength, and age.

Methods: Upper and LE ROM, grip, pinch and quadriceps strength, Timed Up and Go (TUG), Six Minute Walk Test, GMFM-88, and Canadian Occupational Performance Measure data were recorded for 38 participants with HGPS.

Psychometric properties of the PEDI-CAT for children and youth with spinal muscular atrophy.

Purpose: The purpose of this study was to examine the psychometric properties of the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT) in children and youth with Spinal Muscular Atrophy (SMA).

Methods: In this prospective cross-sectional study, caregivers of children and youth with SMA completed the PEDI-CAT Daily Activities and Mobility domains. A subset of caregivers completed a questionnaire about the measure.

The buddy group - peer support for the bereaved.

We describe in this paper the story of the 'Buddy Groups' for bereaved people that were set up at Weston Hospicecare in 2008 and have endured ever since. The group have helped bereaved people to find meaning and value despite their grief. We observed that, through the strength of the relationships formed, people were able to recover well.

Effect of FePd alloy composition on the dynamics of artificial spin ice.

Artificial spin ices (ASI) are arrays of single domain nano-magnetic islands, arranged in geometries that give rise to frustrated magnetostatic interactions. It is possible to reach their ground state via thermal annealing. We have made square ASI using different FePd alloys to vary the magnetization via co-sputtering.

Physical therapy services received by individuals with spinal muscular atrophy (SMA).

Purpose: The consensus statement for standard of care in SMA recommends multidisciplinary medical care including physical therapy (PT) services. To date there are no reports regarding the implementation of these recommendations and the type of care or services received by individuals with SMA. The purpose of this study is to describe the PT services received by individuals with SMA.

Spinal muscular atrophy functional composite score: A functional measure in spinal muscular atrophy.

Introduction: With clinical trials underway, our objective was to construct a composite score of global function that could discriminate among people with spinal muscular atrophy (SMA).

Methods: Data were collected from 126 participants with SMA types 2 and 3. Scores from the Hammersmith Functional Motor Scale-Expanded and Upper Limb Module were expressed as a percentage of the maximum score and 6-minute walk test as percent of predicted normal distance.

Observational study of spinal muscular atrophy type I and implications for clinical trials.

Objectives: Prospective cohort study to characterize the clinical features and course of spinal muscular atrophy type I (SMA-I).

Methods: Patients were enrolled at 3 study sites and followed for up to 36 months with serial clinical, motor function, laboratory, and electrophysiologic outcome assessments. Intervention was determined by published standard of care guidelines.

Improving diabetes outcomes by an innovative group visit model: a pilot study.

Purpose: To develop a group visit model that improves A1C, blood pressure, lipids, depression, and satisfaction among patients with diabetes that can be used in primary care practice settings.

Data Sources: Using a pre/post-test descriptive design, data were collected from 22 adult patients of a private family practice office. All patients had a diagnosis of diabetes and A1C of 7.

Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network.

Therapeutic trials in Duchenne Muscular Dystrophy (DMD) exclude young boys because traditional outcome measures rely on cooperation. The Bayley III Scales of Infant and Toddler Development (Bayley III) have been validated in developing children and those with developmental disorders but have not been studied in DMD. Expanded Hammersmith Functional Motor Scale (HFMSE) and North Star Ambulatory Assessment (NSAA) may also be useful in this young DMD population.

Prospective cohort study of spinal muscular atrophy types 2 and 3.

Objective: To characterize the natural history of spinal muscular atrophy type 2 and type 3 (SMA 2/3) beyond 1 year and to report data on clinical and biological outcomes for use in trial planning.

Methods: We conducted a prospective observational cohort study of 79 children and young adults with SMA 2/3 who participated in evaluations for up to 48 months. Clinically, we evaluated motor and pulmonary function, quality of life, and muscle strength.

Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson-Gilford progeria syndrome.

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein, progerin. This multisystem disorder causes failure to thrive and accelerated atherosclerosis leading to early death. Farnesyltransferase inhibitors have ameliorated disease phenotypes in preclinical studies.

Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND).

Purpose: Preliminary validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) for motor skill assessment in spinal muscular atrophy type I.

Methods: A total of 27 subjects 3 to 260 months old (mean = 49, SD = 69) with spinal muscular atrophy-I were evaluated with the CHOP INTEND. Subjects were evaluated as part of a multicenter natural history study.

Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III.

The relationships between the Expanded Hammersmith Functional Motor Scale (HFMSE) and genotype and motor and respiratory outcomes were examined in patients with spinal muscular atrophy types II and III (n = 70). The correlation between the HFMSE and Gross Motor Function Measure was r = 0.98.

Observational study of spinal muscular atrophy type 2 and 3: functional outcomes over 1 year.

Objective: To characterize the short-term course of spinal muscular atrophy (SMA) in a genetically and clinically well-defined cohort of patients with SMA.

Design: A comprehensive multicenter, longitudinal, observational study.

Setting: The Pediatric Neuromuscular Clinical Research Network for SMA, a consortium of clinical investigators at 3 clinical sites.

Group visits in diabetes care: a systematic review.

Purpose: This review appraised research evidence on the effectiveness of group visits for persons with diabetes. The group visit approach included both education and medical management of the patient, and this review focuses on the implications for the certified diabetes educator (CDE) as part of the group visit provider team.

Methods: A search of a comprehensive list of databases produced 395 articles related to group visits, group education, and primary care of patients with diabetes.

An investigation of the photo-clastogenic potential of ultrafine titanium dioxide particles.

Ultrafine titanium dioxide is widely used in a number of commercial products including sunscreens and cosmetics. There is extensive evidence on the safety of ultrafine titanium dioxide. However, there are some published studies indicating that some forms at least may be photogenotoxic, photocatalytic and/or carcinogenic.

Strength retention of 70:30 poly(L-lactide-co-D,L-lactide) following real-time aging.

This study evaluated the in vitro strength retention and polymer characteristics of plates and screws made from commercially available 70:30 poly(L-lactide-co-D,L-lactide) over a 2-year time period. Test samples included three routine manufacturing lots each of plates (1.2 mm thick, 41.

Calcium carbonate antacids alter esophageal motility in heartburn sufferers.

Chewed calcium carbonate (CaCO3) rapidly neutralizes esophageal acid and may prevent reflux, suggesting another mechanism of action independent of acid neutralization. Calcium is essential for muscle tone. Our aim was to determine if luminal calcium released from chewed antacids improved esophageal motor function in heartburn sufferers.

Self-discrepancy in body dysmorphic disorder.

Objectives: According to self-discrepancy theory (SDT), depression, social anxiety, eating disorders and paranoia result from different types of conflicting self-beliefs. Body dysmorphic disorder (BDD) consists of a preoccupation with imagined or slight defects in one's appearance, which is often associated with a depressed mood and social anxiety. SDT was therefore applied to BDD patients to further understand their beliefs about their appearance.

A three-dimensional osteochondral composite scaffold for articular cartilage repair.

There is a recognized and urgent need for improved treatment of articular cartilage defects. Tissue engineering of cartilage using a cell-scaffold approach has demonstrated potential to offer an alternative and effective method for treating articular defects. We have developed a unique, heterogeneous, osteochondral scaffold using the TheriForm three-dimensional printing process.