Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repeat disorder, in which >200 repeats of the CGG motif in FMR1 leads to silencing of the gene and the consequent loss of its product, fragile X mental retardation 1 protein (FMRP). FMRP has a central role in gene expression and regulates the translation of potentially hundreds of mRNAs, many of which are involved in the development and maintenance of neuronal synaptic connections. Indeed, disturbances in neuroplasticity is a key finding in FXS animal models, and an imbalance in inhibitory and excitatory neuronal circuits is believed to underlie many of the clinical manifestations of this disorder. Our knowledge of the proteins that are regulated by FMRP is rapidly growing, and this has led to the identification of multiple targets for therapeutic intervention, some of which have already moved into clinical trials or clinical practice.

Fragile X syndrome

Heterotopic ossification (HO) is a diverse pathologic process, defined as the formation of extraskeletal bone in muscle and soft tissues. HO can be conceptualized as a tissue repair process gone awry and is a common complication of trauma and surgery. This comprehensive review seeks to synthesize the clinical, pathoetiologic, and basic biologic features of HO, including nongenetic and genetic forms. First, the clinical features, radiographic appearance, histopathologic diagnosis, and current methods of treatment are discussed. Next, current concepts regarding the mechanistic bases for HO are discussed, including the putative cell types responsible for HO formation, the inflammatory milieu and other prerequisite "niche" factors for HO initiation and propagation, and currently available animal models for the study of HO of this common and potentially devastating condition. © 2019 The Authors. JBMR Plus published by Wiley Periodicals, Inc. on behalf of American Society for Bone and Mineral Research.

Heterotopic Ossification: A Comprehensive Review.

The importance of understanding the six-degrees-of-freedom kinematics of the knee during ambulatory activities was examined in the context of the function of total knee arthroplasty. Studies of knee kinematics during walking, stair climbing, and a deep flexion squat indicate that knee kinematics is activity-dependent. A comparative study of patients and healthy subjects during stair climbing indicates the importance of maintaining the function of the posterior cruciate ligament. A second study used walking kinematics derived from patient testing as input to a wear simulator. There was increased wear relative to standard simulator input that was related to the slip velocity at the contact surface. Finally, results from a study of deep flexion indicate that substantial femoral rotation is required during deep flexion activities. The current study shows the importance of studying in vivo knee kinematics for future enhancement in the treatment of the arthritic knee.

The use of functional analysis in evaluating knee kinematics : Knee kinematics and total knee replacement design

Effects of dual-task aquatic exercises on functional mobility, balance and gait of individuals with Parkinson's disease: A randomized clinical trial with a 3-month follow-up.

Physical exercise is effective in managing Parkinson's disease (PD), but the relative benefit of different exercise types remains unclear.To compare the effects of different types of physical exercise in adults with PD on the severity of motor signs, quality of life (QoL), and the occurrence of adverse events, and to generate a clinically meaningful treatment ranking using network meta-analyses (NMAs).An experienced information specialist performed a systematic search for relevant articles in CENTRAL, MEDLINE, Embase, and five other databases to 17 May 2021. We also searched trial registries, conference proceedings, and reference lists of identified studies up to this date.We included randomized controlled trials (RCTs) comparing one type of physical exercise for adults with PD to another type of exercise, a control group, or both.Two review authors independently extracted data. A third author was involved in case of disagreements. We categorized the interventions and analyzed their effects on the severity of motor signs, QoL, freezing of gait, and functional mobility and balance up to six weeks after the intervention using NMAs. Two review authors independently assessed the risk of bias using the risk of bias 2 (RoB 2) tool and rated the confidence in the evidence using the CINeMA approach for results on the severity of motor signs and QoL. We consulted a third review author to resolve any disagreements. Due to heterogeneous reporting of adverse events, we summarized safety data narratively and rated our confidence in the evidence using the GRADE approach.We included 156 RCTs with a total of 7939 participants with mostly mild to moderate disease and no major cognitive impairment. The number of participants per study was small (mean 51, range from 10 to 474). The NMAs on the severity of motor signs and QoL included data from 71 (3196 participants), and 55 (3283 participants) trials, respectively. Eighty-five studies (5192 participants) provided safety data. Here, we present the main results. We observed evidence of beneficial effects for most types of physical exercise included in our review compared to a passive control group. The effects on the severity of motor signs and QoL are expressed as scores on the motor scale of the Unified Parkinson Disease Rating Scale (UPDRS-M) and the Parkinson's Disease Questionnaire 39 (PDQ-39), respectively. For both scales, higher scores denote higher symptom burden. Therefore, negative estimates reflect improvement (minimum clinically important difference: -2.5 for UPDRS-M and -4.72 for PDQ-39). Severity of motor signs The evidence from the NMA (71 studies; 3196 participants) suggests that dance has a moderate beneficial effect on the severity of motor signs (mean difference (MD) -10.32, 95% confidence interval (CI) -15.54 to -4.96; high confidence), and aqua-based, gait/balance/functional, and multi-domain training might have a moderate beneficial effect on the severity of motor signs (aqua-based: MD -7.77, 95% CI -13.27 to -2.28; gait/balance/functional: MD -7.37, 95% CI -11.39 to -3.35; multi-domain: MD -6.97, 95% CI -10.32 to -3.62; low confidence). The evidence also suggests that mind-body training and endurance training might have a small beneficial effect on the severity of motor signs (mind-body: MD -6.57, 95% CI -10.18 to -2.81; endurance: MD -6.43, 95% CI -10.72 to -2.28; low confidence). Flexibility training might have a trivial or no effect on the severity of motor signs (MD 2.01, 95% CI -4.82 to 8.98; low confidence). The evidence is very uncertain about the effects of strength/resistance training and "Lee Silverman Voice training BIG" (LSVT BIG) on the severity of motor signs (strength/resistance: MD -6.97, 95% CI -11.93 to -2.01; LSVT BIG: MD -5.49, 95% CI -14.74 to 3.62; very low confidence). Quality of life The evidence from the NMA (55 studies; 3283 participants) suggests that aqua-based training probably has a large beneficial effect on QoL (MD -14.98, 95% CI -23.26 to -6.52; moderate confidence). The evidence also suggests that endurance training might have a moderate beneficial effect, and that gait/balance/functional and multi-domain training might have a small beneficial effect on QoL (endurance: MD -9.16, 95% CI -15.68 to -2.82; gait/balance/functional: MD -5.64, 95% CI -10.04 to -1.23; multi-domain: MD -5.29, 95% CI -9.34 to -1.06; low confidence). The evidence is very uncertain about the effects of mind-body training, gaming, strength/resistance training, dance, LSVT BIG, and flexibility training on QoL (mind-body: MD -8.81, 95% CI -14.62 to -3.00; gaming: MD -7.05, 95% CI -18.50 to 4.41; strength/resistance: MD -6.34, 95% CI -12.33 to -0.35; dance: MD -4.05, 95% CI -11.28 to 3.00; LSVT BIG: MD 2.29, 95% CI -16.03 to 20.44; flexibility: MD 1.23, 95% CI -11.45 to 13.92; very low confidence). Adverse events Only 85 studies (5192 participants) provided some kind of safety data, mostly only for the intervention groups. No adverse events (AEs) occurred in 40 studies and no serious AEs occurred in four studies. AEs occurred in 28 studies. The most frequently reported events were falls (18 studies) and pain (10 studies). The evidence is very uncertain about the effect of physical exercise on the risk of adverse events (very low confidence). Across outcomes, we observed little evidence of differences between exercise types.We found evidence of beneficial effects on the severity of motor signs and QoL for most types of physical exercise for people with PD included in this review, but little evidence of differences between these interventions. Thus, our review highlights the importance of physical exercise regarding our primary outcomes severity of motor signs and QoL, while the exact exercise type might be secondary. Notably, this conclusion is consistent with the possibility that specific motor symptoms may be treated most effectively by PD-specific programs. Although the evidence is very uncertain about the effect of exercise on the risk of adverse events, the interventions included in our review were described as relatively safe. Larger, well-conducted studies are needed to increase confidence in the evidence. Additional studies recruiting people with advanced disease severity and cognitive impairment might help extend the generalizability of our findings to a broader range of people with PD. 

Physical exercise for people with Parkinson’s disease: a systematic review and network meta-analysis

Our purpose was to record the incidence of heterotopic ossification (HO) following hip replacement by different variables to identify patient groups that are likely to develop HO in the absence of a prophylactic protocol. Radiographically, we studied 651 patients having undergone hip joint replacement, evaluating three kinds of implants: ceramic-ceramic-coupled total hip replacement (THR), TriboFit
 ®
 with polycarbonate urethane-ceramic coupling and endoprosthesis. Each patient was analysed for HO development by age, gender, diagnosis, presence of previous ossifications, surgical approach and kind of implant. Within the population that developed HO, data were assessed for correlation with severity of ossification graded according to Brooker classification. The overall incidence of HOs was 59.91 %. The factors increasing their incidence in the univariate analysis were as follows: lower age of the patients with HO (mean 77.6 years, p = 0.0018) than those subjects who did not develop HO (mean 80.2 years); male gender (64.4 %, p = 0.1011); diagnosis of coxarthrosis (72.7 %, p = 0.0001) compared to femur neck fracture (55.9 %, p = 0.0001); presence of previous HO (76.2 %, p = 0.0260); lateral approach (65.5 %) as opposed to anterior-lateral approach (55.6 %, p = 0.0163); and ceramic-ceramic THR (68.1 %) and TriboFit® (67.0 %) compared to endoprosthesis (51.3 %, p = 0.0001). During multivariate analysis, the presence of HO after previous hip surgery (p = 0.0324) and the kind of implant (p = 0.0004) showed to be independent risk factors for the development of HO. Analysing the population that developed HO, we found that the severity of ossification by Brooker classification was influenced by gender (p = 0.0478) and kind of implant (p = 0.0093). In agreement with the literature, our radiographic study confirms the following risk factors of HO development in absence of any prophylactic treatment: male gender, diagnosis of coxarthrosis compared to femur neck fracture, previous HO, surgical approach and kind of implant. In particular, Hardinge-Bauer and Watson-Jones surgical approaches, characterized by a wide exposure of the coxofemoral joint, and ceramic-ceramic THR and TriboFit® implants significantly increase the development of HO.

/pdf/heterotopic-ossification-following-hip-arthroplasty-a-4um0ccwugk.pdf

Heterotopic ossification following hip arthroplasty: a comparative radiographic study about its development with the use of three different kinds of implants

Muscular activation changes in lower limbs after underwater gait training in Parkinson's disease: A surface emg pilot study.

Atypical localizations of calcific deposits in the shoulder.

Surface emg analysis in parkinson disease patients before and after underwater gait training

Effect of underwater gait training on Parkinson's disease: Assessment through 3D underwater and on land gait analysis

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