The clinical outcome of present treatments seems to be good in most cases, but large-scale randomized trials are still needed to verify the efficacy of the wide variety of operations and fixation techniques that are currently being offered.

BackgroundStiffness with decreased range of motion (ROM) has been described as a frustrating complication after TKA. If all methods of physiotherapeutic treatment have been exhausted trying to develop ROM, manipulation under anaesthesia (MUA) can be discussed. The aim of the present study was to show the effect of MUA and to determine the influence of BMI, number of previous surgical procedures, pre-MUA ROM and timing of MUA for the results after MUA in regard to absolute flexion and gain in flexion.Methods858 patients underwent TKA at our institution between 2004 and 2009. 39 of these patients underwent MUA because of postoperative knee stiffness. The data were retrospective analysed for the influence of BMI, pre-MUA flexion (/≤ 30 days after TKA) and number of previous surgery on the results after MUA (absolute Flexion/gain in flexion).ResultsThe prevalence for stiffness after TKA was 4.54%. There was a statistically significant improvement in flexion not only directly after MUA but also 6 weeks after MUA. Patients with two or more previous operations before TKA showed statistically significant worse results six weeks after MUA in absolute flexion and gain in flexion(p = 0.039) than patients with one or two previous operations. No statistical significance in absolute flexion (p = 0.655) and gain in flexion (p = 0.328) after MUA between "early" and "late" was detected. The stiffer knees with a flexion below 70° showed significantly worse results (p = 0.044) in absolute flexion six weeks after MUA, but they also had statistical statistically better results with regard to gain in flexion (p ≤ 0.001).ConclusionMUA is a good instrument for improving ROM after TKA. The time between TKA and MUA seems less important, so different types of physiotherapeutic treatment could be tried before the procedure is started. MUA in patients with many previous operations and a flexion of less than 70° before MUA is not as effective as in other patients, but they also benefit from MUA.

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BackgroundIARS2 encodes a mitochondrial isoleucyl-tRNA synthetase, a highly conserved nuclear-encoded enzyme required for the charging of tRNAs with their cognate amino acid for translation. Recently, pathogenic IARS2 variants have been identified in a number of patients presenting broad clinical phenotypes with autosomal recessive inheritance. These phenotypes range from Leigh and West syndrome to a new syndrome abbreviated CAGSSS that is characterised by cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, as well as cataract with no additional anomalies.MethodsGenomic DNA from Iranian probands from two families with consanguineous parental background and overlapping CAGSSS features were subjected to exome sequencing and bioinformatics analysis.ResultsExome sequencing and data analysis revealed a novel homozygous missense variant (c.2625C > T, p.Pro909Ser, NM_018060.3) within a 14.3 Mb run of homozygosity in proband 1 and a novel homozygous missense variant (c.2282A > G, p.His761Arg) residing in an ~ 8 Mb region of homozygosity in a proband of the second family. Patient-derived fibroblasts from proband 1 showed normal respiratory chain enzyme activity, as well as unchanged oxidative phosphorylation protein subunits and IARS2 levels. Homology modelling of the known and novel amino acid residue substitutions in IARS2 provided insight into the possible consequence of these variants on function and structure of the protein.ConclusionsThis study further expands the phenotypic spectrum of IARS2 pathogenic variants to include two patients (patients 2 and 3) with cataract and skeletal dysplasia and no other features of CAGSSS to the possible presentation of the defects in IARS2. Additionally, this study suggests that adult patients with CAGSSS may manifest central adrenal insufficiency and type II esophageal achalasia and proposes that a variable sensorineural hearing loss onset, proportionate short stature, polyneuropathy, and mild dysmorphic features are possible, as seen in patient 1. Our findings support that even though biallelic IARS2 pathogenic variants can result in a distinctive, clinically recognisable phenotype in humans, it can also show a wide range of clinical presentation from severe pediatric neurological disorders of Leigh and West syndrome to both non-syndromic cataract and cataract accompanied by skeletal dysplasia.Electronic supplementary materialThe online version of this article (10.1186/s12881-018-0709-3) contains supplementary material, which is available to authorized users.

Background The aim of the study was to evaluate changes in plantar pressure distribution in feet affected by hallux valgus compared with their contralateral non-affected feet and with the feet of healthy control subjects. Methods Thirty-six patients with unilateral hallux valgus who were indicated for surgery and 30 healthy subjects were assessed on a pedobarographic instrumented treadmill for step length and width, mean stance phase, and plantar foot pressure distribution. Plantar pressure distribution was divided into eight regions. Results Significantly higher plantar pressures were observed in hallux valgus feet under the second and third metatarsal heads ( p = .033) and the fourth and fifth toes ( p < .001) than in the healthy control feet. Although decreased pressures were measured under the hallux in affected feet (197 [82–467] kPa) in contrast to the contralateral side (221 [89–514] kPa), this difference failed to reach statistical significance ( p = .055). The gait parameters step width, step length, and single-limb support did not show any differences between hallux valgus and control feet. Conclusion Although the literature on changes in plantar pressures in hallux valgus remains divided, our findings on transferring load from the painful medial to the central and lateral forefoot region are consistent with the development of transfer metatarsalgia in patients with hallux valgus. Electronic supplementary material The online version of this article (10.1186/s12891-019-2531-2) contains supplementary material, which is available to authorized users.