Inclusion body myopathy with Paget disease of the bone (PDB) and/or frontotemporal dementia (IBMPFD, OMIM 167320), is a progressive autosomal dominant disorder caused by mutations in the Valousin-containing protein (VCP, p97 or CDC48) gene. IBMPFD can be difficult to diagnose. We assembled data on a large set of families to illustrate the number and type of misdiagnoses that occurred. Clinical analysis of 49 affected individuals in nine families indicated that 42 (87%) of individuals had muscle disease. The majority were erroneously diagnosed with limb girdle muscular dystrophy (LGMD), facioscapular muscular dystrophy, peroneal muscular dystrophy, late adult onset distal myopathy, spinal muscular atrophy, scapuloperoneal muscular dystrophy, or amyotrophic lateral sclerosis (ALS) among others. Muscle biopsies showed rimmed vacuoles characteristic of an inclusion body myopathy in 7 of 18 patients (39%), however, inclusion body myopathy was correctly diagnosed among individuals in only families 5 and 15. Frontotemporal dementia (FTD) was diagnosed in 13 individuals (27%) at a mean age of 57 years (range 48.9-60.2 years); however, several individuals had been diagnosed with Alzheimer disease. Histopathological examination of brains of three affected individuals revealed a pattern of ubiquitin positive neuronal intranuclear inclusions and dystrophic neurites. These families expand the clinical phenotype in IBMPFD, a complex disorder caused by mutations in VCP. The presence of PDB in 28 (57%) individuals suggests that measuring serum alkaline phosphatase (ALP) activity may be a useful screen for IBMPFD in patients with myopathy.

It may be advantageous to create a "higher" femoral tunnel during ACL reconstruction at the lateral intercondylar ridge.

Abstract

Meticulous clinical examination and careful imaging assessment, including CT and MRI, assist an early diagnosis in cases of lumbosacral dislocation. Open reduction and circumferential bony fusion restore segmental stability and painless function.

Once links are drawn between clusters and clinically relevant outcomes, Immunochip data can be used to classify high-risk and newly diagnosed chronic disease patients into known clusters for predictive value. Further investigation can extend beyond pathway analysis to evaluate these clusters for clinical significance of genetically related characteristics such as age of onset, disease course, heritability, and response to treatment.

Study design: Retrospective study of 432 patients admitted to our institution with a spinal injury over a 5-year period. Objectives:To present epidemiological data relating to this spinal population, reporting specifically on delayed admission and length of hospitalisation. Setting: Royal National Orthopaedic Hospital, Stanmore, UK. Methods: A total of 432 traumatic spinal injuries admitted between March 1998 and March 2003 were analysed with respect to age, gender, mechanism of injury, level of bony injury, neurological level (complete, incomplete and intact), Injury Severity Score (ISS), date of injury, referral and admission independently and length of hospitalisation. The delays between injury and referral (43 days) and between referral and admission (47 days) were correlated to the length of hospitalisation. A detailed analysis of the cause of delay at both junctures was undertaken.Results: There were 322 males (average age, 38.6 years) and 110 females (average age, 41.8 years) in our study. Classification of neurological severity disclosed 108 complete injuries, 115 incomplete and 209 intact. The average time between injury and referral was 5.5 days (range 0-94), and between referral and admission was 10.7 days (range 0-130). A total of 161 patients (37%) experienced a delay between injury and referral, of whom 59 (37%) were subsequently also delayed to admission. The principal reason for delay between injury and referral was the treatment of concurrent injuries. Even patients with complete injuries (15/43) experienced delayed referral. In all, 112 patients (26%) experienced a delay between referral and admission. Principal reasons included the provision of beds (Intensive care, acute and rehabilitation) and physiological stabilisation of other injuries particularly thoracic trauma. Conclusions: Provision of beds remains the most common preventable reason for delay between referral and admission and is associated with increased hospitalisation. Early liaison with a designated spinal injuries unit, particularly those with cord injury remains vitally important.

No abstract

Purpose We aim to describe a mechanism of failure in magnetically controlled growth rods which are used for the correction of the early onset scoliosis. Methods This retrieval study involved nine magnetically controlled growth rods, of a single design, revised from five patients for metal staining, progression of scoliosis, swelling, fractured actuator pin, and final fusion. All the retrieved rods were radiographed and assessed macroscopically and microscopically for material loss. Two implants were further analysed using micro-CT scanning and then sectioned to allow examination of the internal mechanism. No funding was obtained to analyse these implants. There were no potential conflicts interests. Results Plain radiographs revealed that three out of nine retrieved rods had a fractured pin. All had evidence of surface degradation on the extendable telescopic rod. There was considerable corrosion along the internal mechanism. Conclusions We found that a third of the retrieved magnetically controlled growth rods had failed due to pin fracture secondary to corrosion of the internal mechanism. We recommend that surgeons consider that any inability of magnetically controlled growth rods to distract may be due to corrosive debris building up inside the mechanism, thereby preventing normal function.