Mobility, Balance and Falls in Persons with Multiple Sclerosis

BACKGROUND: There is a lack of information concerning the relation between objective measures of gait and balance and fall history in persons with MS (PwMS). This investigation assessed the relation between demographic, clinical, mobility and balance metrics and falls history in persons with multiple sclerosis (MS). METHODS: 52 ambulatory persons with MS (PwMS) participated in the investigation. All persons provided demographic information including fall history over the last 12 months. Disease status was assessed with Expanded Disability Status Scale (EDSS). Walking speed, coordination, endurance and postural control were quantified with a multidimensional mobility battery. RESULTS: Over 51% of the participants fell in the previous year with 79% of these people being suffering recurrent falls. Overall, fallers were older, had a greater prevalence of assistive devices use, worse disability, decreased walking endurance, and greater postural sway velocity with eyes closed compared to non-fallers. Additionally, fallers had greater impairment in cerebellar, sensory, pyramidal, and bladder/bowel subscales of the EDSS. CONCLUSIONS: The current observations suggest that PwMS who are older, more disabled, utilize an assistive device, have decreased walking coordination and endurance and have diminished balance have fallen in the previous year. This suggests that individuals who meet these criteria need to be carefully monitored for future falls. Future research is needed to determine a prospective model of falls specific to PwMS. Additionally, the utility of interventions aimed at reducing falls and fall risk in PwMS needs to be established

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Metachondromatosis (MC) is a rare, autosomal dominant, incompletely penetrant combined exostosis and enchondromatosis tumor syndrome. MC is clinically distinct from other multiple exostosis or multiple enchondromatosis syndromes and is unlinked to EXT1 and EXT2, the genes responsible for autosomal dominant multiple osteochondromas (MO). To identify a gene for MC, we performed linkage analysis with high-density SNP arrays in a single family, used a targeted array to capture exons and promoter sequences from the linked interval in 16 participants from 11 MC families, and sequenced the captured DNA using high-throughput parallel sequencing technologies. DNA capture and parallel sequencing identified heterozygous putative loss-of-function mutations in PTPN11 in 4 of the 11 families. Sanger sequence analysis of PTPN11 coding regions in a total of 17 MC families identified mutations in 10 of them (5 frameshift, 2 nonsense, and 3 splice-site mutations). Copy number analysis of sequencing reads from a second targeted capture that included the entire PTPN11 gene identified an additional family with a 15 kb deletion spanning exon 7 of PTPN11. Microdissected MC lesions from two patients with PTPN11 mutations demonstrated loss-of-heterozygosity for the wild-type allele. We next sequenced PTPN11 in DNA samples from 54 patients with the multiple enchondromatosis disorders Ollier disease or Maffucci syndrome, but found no coding sequence PTPN11 mutations. We conclude that heterozygous loss-of-function mutations in PTPN11 are a frequent cause of MC, that lesions in patients with MC appear to arise following a “second hit,” that MC may be locus heterogeneous since 1 familial and 5 sporadically occurring cases lacked obvious disease-causing PTPN11 mutations, and that PTPN11 mutations are not a common cause of Ollier disease or Maffucci syndrome

Happiness through leisure

Happiness is important to individuals. If one were to make a judgment based on the vast amount of self-help books available in any bookstore, the conclusion would have to be that happiness is a very important aspect of people’s lives. Whether such books actually provide any solutions to increase happiness is doubtful (Bergsma, 2008). Nevertheless, many are clearly interested in happiness

Early reduction versus skin traction in the orthopaedic treatment of femoral shaft fractures in children under 6 years old

Background Femoral shaft fractures occur very frequently in children, and their prognosis usually is good. Nonoperative treatment is the gold standard for children under 6 years because of the excellent bony union and the remodelling qualities. Purpose The aim of this study was to compare two orthopaedic therapeutic methods: skin traction versus immediate reduction. Materials and methods The study involved 35 children, divided into two groups: in group 1, treatment consisted of skin traction for 21 days followed by hip spica casting; in group 2, an immediate reduction with early hip spica casting was performed. The ranges of motion, the delay before weight bearing, the hospitalisation duration and the required amount of painkillers were recorded. We compared initial shortening, axial, sagittal and rotational alignment, and femoral length discrepancy. We calculated the injured femoral diaphysal overgrowth and correlated it to the fracture type and location and to the initial shortening. Economical variables were also studied. Results The mean overgrowth was 8.9 mm in group 1 and 8.5 mm in group 2. Three years after the trauma, length discrepancy was 4 mm in group 1 and 1 mm in group 2. Hip spica casting leads to significant reductions in weight-bearing delay, hospitalisation duration and pain. The cost of treatment with skin traction was four times higher (24,472 euros) than that of immediate reduction (6,384 euros). Discussion Our results are in accordance with the literature. The femoral overgrowth was proportional to the initial shortening. Masculine gender, an oblique fracture and injury of the lower third of the femur were associated with the greatest femoral overgrowth. During the first year of follow-up, the femoral length discrepancy hardly varied after immediate reduction (4 mm), whereas the overgrowth reached 6 mm after skin traction. Overall, immediate hip spica casting leads to significant reductions in weight-bearing delay, hospitalisation duration, complications and costs, while having similar clinical results as traction.PublishedN/