Rehabilitation Strategies Research Articles

Rehabilitation Strategies for Patients With Spinal Muscular Atrophy in the Era of Disease-Modifying Therapy.

The impact of disease-modifying therapy ranges from cure to no impact with a wide range of intermediates. In cases where the intermediate group reaches a plateau after the acquisition of some muscle strength, it is necessary to set a functional level appropriate for increased motor power and establish a long-term exercise plan to maintain it. As the disease status stabilizes and the life span increases, early nonsurgical interventions are required, such as using a standing frame to prevent joint contracture, applying a spinal brace at the early stage of scoliosis, and maintaining sitting postures that exaggerate lumbar lordosis. In cases where scoliosis and hip displacement occur and progress even after conservative managements are implemented, early referral to surgery should be considered. Oromotor activity and swallowing function are influenced not only by the effects of disease-modifying drugs, but also by post-birth experience and training. Therefore, although the feeding tube cannot be removed, it is necessary to make efforts to simulate the infant feeding development while maintaining partial oral feeding. Since the application period of non-invasive ventilators has increased, it has become more important to prevent long-term complications such as facial abrasion, skin allergy, orthodontic deformities, and maxillary flattening caused by the interface. Dual ventilator mode or interface can also be utilized.

Mothers and Others: How Collective Strategies Reproduce Social Norms Around Motherhood

This study examines how various actors deal with increasing mothering diversity in collective discourses and how they construct social norms around motherhood. Both questions address research gaps in the sociological literature. Theoretically conceptualized as relational behavioral rules, social norms around motherhood concern mothers who are expected to behave accordingly, and other actors, that is, mothers and others, who expect certain behaviors. Findings from a qualitative in-depth analysis of 24 gender homogeneous and heterogeneous focus groups in Austria ( n = 173) explicate how mothers and others collectively expected mothers to be child-centered and present. They constructed three types of mothers who did not fully adhere to these norms and employed corresponding strategies: Discussants responded to prevented mothers with rehabilitation strategies, to optimizing mothers with concession strategies and to ignoring mothers with refusal strategies. These collective strategies reproduce and enforce social norms around motherhood, although diversified mothering practices prove their utopian and relational character.

Exploring white matter dynamics and morphology through interactive numerical phantoms: the White Matter Generator.

Brain white matter is a dynamic environment that continuously adapts and reorganizes in response to stimuli and pathological changes. Glial cells, especially, play a key role in tissue repair, inflammation modulation, and neural recovery. The movements of glial cells and changes in their concentrations can influence the surrounding axon morphology. We introduce the White Matter Generator (WMG) tool to enable the study of how axon morphology is influenced through such dynamical processes, and how this, in turn, influences the diffusion-weighted MRI signal. This is made possible by allowing interactive changes to the configuration of the phantom generation throughout the optimization process. The phantoms can consist of myelinated axons, unmyelinated axons, and cell clusters, separated by extra-cellular space. Due to morphological flexibility and computational advantages during the optimization, the tool uses ellipsoids as building blocks for all structures; chains of ellipsoids for axons, and individual ellipsoids for cell clusters. After optimization, the ellipsoid representation can be converted to a mesh representation which can be employed in Monte-Carlo diffusion simulations. This offers an effective method for evaluating tissue microstructure models for diffusion-weighted MRI in controlled bio-mimicking white matter environments. Hence, the WMG offers valuable insights into white matter's adaptive nature and implications for diffusion-weighted MRI microstructure models, and thereby holds the potential to advance clinical diagnosis, treatment, and rehabilitation strategies for various neurological disorders and injuries.

Muscle Network Connectivity Study in Diabetic Peripheral Neuropathy Patients.

Diabetic peripheral neuropathy (DPN) is a prevalent complication of chronic diabetes mellitus and has a significant impact on quality of life. DPN typically manifests itself as a symmetrical, length-dependent sensorimotor polyneuropathy with severe effects on gait. Surface electromyography (sEMG) is a valuable low-cost tool for assessing muscle activation patterns and precise identification of abnormalities. For the present study, we used information theory methods, such as cross-correlation (CC), normalized mutual information (NMI), conditional granger causality (CG-Causality), and transfer entropy (TE), to evaluate muscle network connectivity in three population groups: 33 controls (healthy volunteers, CT), 10 diabetic patients with a low risk of DPN (LW), and 17 moderate/high risk patients (MH). The results obtained indicated significant alterations in the intermuscular coupling mechanisms due to diabetes and DPN, with the TE group showing the best performance in detecting differences. The data revealed a significant increase in information transfer and muscle connectivity in the LW group over the CT group, while the MH group obtained significantly lower values for these metrics than the other two groups. These findings highlight the sEMG coupling metrics' potential to reveal neuromuscular mechanisms that could aid the development of targeted rehabilitation strategies and help monitor DPN patients.

Rehabilitation for Functioning and Quality of Life in Patients with Malignant Pleural Mesothelioma: A Scoping Review.

Malignant pleural mesothelioma (MPM) represents a significant clinical challenge due to limited therapeutic options and poor prognosis. Beyond mere survivorship, setting up an effective framework to improve functioning and quality of life is an urgent need in the comprehensive management of MPM patients. Therefore, this study aims to review the current understanding of MPM sequelae and the effectiveness of rehabilitative interventions in the holistic approach to MPM. A narrative review was conducted to summarize MPM sequelae and their impact on functioning, disability, and quality of life, focusing on rehabilitation interventions in MPM management and highlighting gaps in knowledge and areas for further investigation. Our findings showed that MPM patients experience debilitating symptoms, including fatigue, dyspnea, pain, and reduced exercise tolerance, decreasing quality of life. Supportive and rehabilitative interventions, including pulmonary rehabilitation, physical exercise improvement, psychological support, pain management, and nutritional supplementation, seem promising approaches in relieving symptoms and improving quality of life but require further research. These programs emphasize the pivotal synergy among patient-tailored plans, multidisciplinary team involvement, and disease-specific focus. Despite advancements in therapeutic management, MPM remains a challenging disease with limited effective interventions that should be adapted to disease progressions. Rehabilitative strategies are essential to mitigate symptoms and improve the quality of life in MPM patients. Further research is needed to establish evidence-based guidelines for rehabilitative interventions tailored to the unique needs of MPM patients.

Dari Kekerasan Menuju Kesehatan Mental: Studi Kasus Konseling Realita pada Pelaku Kekerasan Seksual

Sexual violence is a serious problem that has deep psychological, physical and social impacts on victims and perpetrators. This study aims to examine the effectiveness of Reality counseling in helping male perpetrators of sexual violence overcome identity conflicts, modify maladaptive behavior, and improve their adaptation skills. This case study uses a qualitative approach with in-depth interviews and participant observation to analyze the effectiveness of Reality counseling for a perpetrator of male sexual violence against men. The study results showed that this therapy was successful in changing the perpetrator's behavior and emotional responses, and contributed to his emotional well-being while reducing the risk of relapse. Future research needs to explore the long-term effectiveness of Reality counseling in different contexts and individual characteristics to further deepen rehabilitation strategies for sexual assault perpetrators.

Wheelchair Basketball: morpho-functional and physiological aspects of the shoulder

Wheelchair basketball is one of the most popular paralympic sports. It is a great physical activity that guarantees important health benefits and promotes the well-being and social inclusion for disabled people. At the same time, wheelchair basketball involves a significant risk of injuries for wheelchair basketball players and upper limbs are the most burdened body segments. In particular, sport specific gestures lead to progressive overload of the shoulder joint, which usually results in shoulder pain. For these reasons, scientific and technological progress should improve the development of rehabilitative strategies to promote shoulder health and then to reduce shoulder pain. Within the spectrum of new technologies, electromyography is a tool that allows real-time measurement and to take advantage of the potentiality of biofeedback, so it has been used previously to improve the outcome of rehabilitation treatments. Therefore, the purpose of this review is to summarize and analyze the current evidence regarding the use of electromyography, as a rehabilitative strategy, to reduce shoulder pain in wheelchair basketball athletes. Following the PRISMA statement guidelines (PROSPERO - 2023, n° CRD42023470395), a total of 10 studies met the inclusion and exclusion criteria after a search of three databases (Pubmed, Google Scholar and Cochrane Library). The result of this review highlights the importance of electromyography and surface electromyography in the prevention and treatment of shoulder pain in wheelchair basketball athletes. Moreover, this examination emphasizes that using surface electromyography as a biofeedback seems to be an effective way to speed up shoulder pain rehabilitation outcomes in wheelchair basketball athletes. Keywords: exercise; sport; technologies; rehabilitation, physiology.

Cost-Effectiveness Analysis of Rehabilitation Methods for Stroke Survivors

Background: One of the challenges in stroke management is how to provide rehabilitation services to stroke patients in Iran. Objectives: This study aimed to evaluate and compare the cost-effectiveness of rehabilitation interventions for stroke patients in three settings: Hospitals, stroke units, and homes. Methods: This cross-sectional study was conducted from the perspective of the health system. A Markov model with a 20-year time horizon and 3-month cycles was used to analyze costs and outcomes. Cost data were collected from 210 patients undergoing rehabilitation in hospitals, homes, or stroke units. The cost-effectiveness analysis (CEA) was conducted by calculating the incremental cost-effectiveness ratio (ICER) using Tree Age software. Results: The average rehabilitation cost for the home strategy ($2306 ± 35.018) was less than that for the hospital ($2955 ± 48.18) and stroke unit ($3485 ± 51.63) strategies. Furthermore, the QALY of the home strategy (26.03) was 8 times higher than that of the hospital (17.99) and 19 times higher than that of the stroke unit (7.03). The average cost-effectiveness ratios for the hospital, stroke unit, and home groups were $11424, $33159, and $7233 per QALY, respectively. The ICERs for stroke unit and home rehabilitation relative to hospital rehabilitation were $2517 and $2145 per QALY, respectively. Conclusions: According to the results, the home-based rehabilitation strategy is more cost-effective than hospital and stroke unit rehabilitation strategies. Given the high rates of stroke and its associated costs in Iran, it is suggested that policymakers lay the groundwork for providing these services at home.

Online Group Cognitive Rehabilitation Program for Prostate Cancer Survivors: Development Using Codesign and the Theoretical Domains Framework

ObjectivesThis study aimed to describe the adaptation of a group cognitive rehabilitation program for prostate cancer survivors (PCS) via telehealth delivery using a codesign approach with PCS experiencing cancer-related cognitive impairment. The Theoretical Domains Framework (TDF) also informed the intervention development. MethodsIntervention development consisted of three steps: 1) Adapting an existing cancer-related cognitive rehabilitation program for PCS; 2) Conducting a codesign focus group workshop to gather feedback that was analyzed using a template approach; and 3) Incorporation of consumer feedback to refine the program for future piloting in PCS. Components of the finalized intervention were mapped onto the TDF domains. ResultsSix PCS were involved in the codesign focus group workshop, providing feedback on program structure, the topics and its order, and rehabilitation activities. A manualized four-week online group cognitive rehabilitation program titled “Promoting Cognitive Wellbeing in Prostate Cancer Survivors (ProCog)” was developed. Four sessions of 2-hours’ duration were designed exploring: cognitive/brain functions; the impact of cancer treatments and ageing; the relationship between thoughts, feelings and behaviors; values-based goal-setting; and skills/strategies to manage fatigue and improve attention, memory, aspects of executive functioning, and emotional functioning. ConclusionsConsumer input and guidance from the TDF ensures a robust development process for the online ProCog intervention, designed for and with PCS experiencing cognitive difficulties. As an important initial step before piloting, this adaptation and development process ensures that ProCog addresses consumer needs and preferences and targets factors increasing behavior change. Implications for Nursing PracticeThis research raises awareness of possible cancer-related cognitive impairments in prostate cancer survivors and strategies for rehabilitation. ProCog is an accessible online intervention that nurses can use to refer patients needing cognitive rehabilitation.

Leflunomide-Associated Wound Complication After Cochlear Implantation: A Case Report.

Cochlear implantation has become an increasingly common strategy for aural rehabilitation in patients with severe to profound hearing loss who no longer benefit from conventional amplification. In conjunction, immunosuppressive therapies (e.g. disease-modifying anti rheumatic drugs (DMARDs) have become the keystone of management in numerous autoimmune conditions. Given the increasing prevalence of both, a greater proportion of patients will undergo cochlear implantation while on immune-modulating medications. While these medications are usually well tolerated, immunosuppression may put patients a higher risk for device infections. At present, this is not extensively studied within the cochlear implant literature. We conducted a retrospective chart review and review of the literature.Results:We present the case of an 81-year-old male who experienced wound dehiscence and infection secondary to leflunomide use for treatment of rheumatoid arthritis. Resolution of these issues was noted with a therapeutic drug holiday, and the patient has subsequently undergone re-implantation without issue.Conclusions:The case highlights a potential CI-associated wound complication in the setting of DMARD therapy. Given the increasing prevalence of both CIs and immunosuppressive therapy, future study on the potential for interaction is warranted to identify the best management strategy in the perioperative setting.

Effectiveness of Kinesiotherapy in the Treatment of Achilles Tendinopathy-A Narrative Review.

This narrative review of kinesiotherapy methods in the treatment of Achilles tendinopathy (AT) encompassed a diverse range of studies, including athletes and untrained people, healthy or injured, undergoing kinesiotherapy treatments. Most experimental studies (86%) reported results related to pain perception, 27% to the range of motion, and 27% to biomechanical assessment. However, the studies showed notable heterogeneity in the outcomes associated with the interventions, and, in this review of kinesiotherapy protocols for AT, a prominent observation emerged regarding their efficacy, suggesting a more favorable impact on pain and tendon stiffness management when comparing the measured parameters between the trained and untrained groups. The importance of tailoring the treatment approach based on the individual's athletic background and conditioning status is underscored. There is a need for personalized rehabilitation strategies in athletic populations. The average duration of kinesiotherapy in the treatment of tendinopathy was 15.3 weeks. This observation underscores the potential of kinesiotherapy interventions as a viable treatment option for individuals with Achilles tendon issues. These findings underscore the urgent need for further research to provide stakeholders with more comprehensive directions for future studies. The results may be helpful for doctors, physiotherapists, trainers, and researchers interested in this topic.

Auditory and Language Abilities in Children with Takenouchi-Kosaki Syndrome: A Systematic Review.

Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by a de novo mutation in the Cell Division Cycle 42 (CDC42) gene. Patients with TKS present facial and body dysmorphisms, hematologic and immune dysregulation, intellectual disability, neurodevelopmental delay and hearing loss. The aim of this study is to review the literature, focusing on hearing and language abilities in children with TKS. A systematic search on PubMed, Scopus and Web of Science databases was performed, including twelve studies for a total of 13 patients. Hearing loss (HL) occurs in a great percentage of patients (84.6%); nonetheless, auditory threshold, severity of HL and language abilities were reported in a few cases. In two studies, auditory rehabilitation strategies were described. Although several studies have investigated the hematological features of TKS, still only a few authors have focused on the audiological and language abilities of these children. Given the fact that HL has a significant impact on behaviors, communications skills, and quality of life, it is important to adequately assess and rehabilitate patients early with this syndrome. Further studies are needed to improve the knowledge about this topic and improve the quality of life of patients with TKS.

Theoretical proposal for restoration of hand motor function based on plasticity of motor-cortical interhemispheric interaction and its developmental rule.

After stroke, the poorer recovery of motor function of upper extremities compared to other body parts is a longstanding problem. Based on our recent functional MRI evidence on healthy volunteers, this perspective paper proposes systematic hand motor rehabilitation utilizing the plasticity of interhemispheric interaction between motor cortices and following its developmental rule. We first discuss the effectiveness of proprioceptive intervention on the paralyzed (immobile) hand synchronized with voluntary movement of the intact hand to induce muscle activity in the paretic hand. In healthy participants, we show that this bilateral proprioceptive-motor coupling intervention activates the bilateral motor cortices (= bilaterally active mode), facilitates interhemispheric motor-cortical functional connectivity, and augments muscle activity of the passively-moved hand. Next, we propose training both hands to perform different movements, which would be effective for stroke patients who becomes able to manage to move the paretic hand. This bilaterally different movement training may guide the motor cortices into left-right independent mode to improve interhemispheric inhibition and hand dexterity, because we have shown in healthy older adults that this training reactivates motor-cortical interhemispheric inhibition (= left-right independent mode) declined with age, and can improve hand dexterity. Transition of both motor cortices from the bilaterally active mode to the left-right independent mode is a developmental rule of hand motor function and a common feature of motor function recovery after stroke. Hence, incorporating the brain's inherent capacity for spontaneous recovery and adhering to developmental principles may be crucial considerations in designing effective rehabilitation strategies.

Population-specific equations of age-related maximum handgrip force: a comprehensive review.

The measurement of handgrip force responses is important in many aspects, for example: to complement neurological assessments, to investigate the contribution of muscle mass in predicting functional outcomes, in setting realistic treatment goals, evaluating rehabilitation strategies. Normative data about handgrip force can assist the therapist in interpreting a patient's results compared with healthy individuals of the same age and gender and can serve as key decision criteria. In this context, establishing normative values of handgrip strength is crucial. Hence, the aim of the this study is to develop a tool that could be used both in rehabilitation and in the prevention of work-related musculoskeletal disorders. This tool takes the form of population-specific predictive equations, which express maximum handgrip force as a function of age. In order to collect data from studies measuring maximum handgrip force, three databases were searched. The search yielded 5,058 articles. Upon the removal of duplicates, the screening of abstracts and the full-text review of potentially relevant articles, 143 publications which focussed on experimental studies on various age groups were considered as fulfilling the eligibility criteria. A comprehensive literature review produced 1,276 mean values of maximum handgrip force. A meta-analysis resulted in gender- and world region-specific (general population, USA, Europe and Asia) equations expressing maximum force as a function of age. The equations showed quantitative differences and trends in maximum handgrip force among age, gender and national groups. They also showed that values of maximum handgrip force are about 40% higher for males than for females and that age-induced decrease in force differs between males and females, with a proved 35% difference between the ages of 35 and 75. The difference was lowest for the 60-64 year olds and highest for the 18-25 year-olds. The equations also showed that differences due to region are smaller than those due to age or gender. The equations that were developed for this study can be beneficial in setting population-specific thresholds for rehabilitation programmes and workstation exposure. They can also contribute to the modification of commonly used methods for assessing musculoskeletal load and work-related risk of developing musculoskeletal disorders by scaling their limit values.

Endotyping Chronic Respiratory Diseases: T2 Inflammation in the United Airways Model.

Over the past 15 years, the paradigm of viewing the upper and lower airways as a unified system has progressively shifted the approach to chronic respiratory diseases (CRDs). As the global prevalence of CRDs continues to increase, it becomes evident that acknowledging the presence of airway pathology as an integrated entity could profoundly impact healthcare resource allocation and guide the implementation of pharmacological and rehabilitation strategies. In the era of precision medicine, endotyping has emerged as another novel approach to CRDs, whereby pathologies are categorized into distinct subtypes based on specific molecular mechanisms. This has contributed to the growing acknowledgment of a group of conditions that, in both the upper and lower airways, share a common type 2 (T2) inflammatory signature. These diverse pathologies, ranging from allergic rhinitis to severe asthma, frequently coexist and share diagnostic and prognostic biomarkers, as well as therapeutic strategies targeting common molecular pathways. Thus, T2 inflammation may serve as a unifying endotypic trait for the upper and lower airways, reinforcing the practical significance of the united airways model. This review aims to summarize the literature on the role of T2 inflammation in major CRDs, emphasizing the value of common biomarkers and integrated treatment strategies targeting shared molecular mechanisms.

Executive functioning in posttraumatic stress disorder: Understanding how inhibition, switching, and test modality affect reaction times.

Posttraumatic stress disorder (PTSD) has been linked to deficits in executive functioning, but the literature suggests these associations are inconsistent. Results vary depending on the task used, test modality, and the specific subdomain being measured, such as inhibitory control (interference resolution, response inhibition) or set shifting (task switching, rule switching). Notably, deficits are more consistently observed in computerized tasks that measure precise reaction times (RTs) than in classic paper-and-pencil measures, but few studies have parsed specific executive functioning deficits in PTSD using detailed analyses of RT data. The present study used a cued-switching Stroop Task to examine both interference resolution and task switching in 28 veterans with PTSD and 28 age-matched controls. Each trial required attending to a randomly presented cue and responding to the specified target while ignoring irrelevant or opposing information. Analyses of RT distributions estimated both Gaussian (normal) and ex-Gaussian (exponential) parameters. Veterans with PTSD had slower and more variable RTs than the controls on trials that required ignoring conflicting information (interference resolution, d' = .68). These effects were confined to the normal distribution, not to excessively slow responses (as estimated by ex-Gaussian parameters). Veterans with PTSD also showed modestly slower RTs on trials that required switching between cues, but Bayesian evidence for this was weak, and measures by ex-Gaussian parameters were not significant. These results highlight the importance of examining executive functioning in PTSD with a more nuanced approach, as clarity around these deficits may have important implications for future intervention and rehabilitation strategies. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

Pelvic Floor Rehabilitation for Urinary Incontinence after Radical Prostatectomy: Techniques and Recommendations

Introduction: Urinary incontinence is a common complication following radical prostatectomy, significantly impacting patients' quality of life. This systematic review aimed to evaluate the efficacy of various pelvic floor rehabilitation techniques in managing post-prostatectomy urinary incontinence. Methods: A comprehensive literature search was conducted using PubMed and Google Scholar, yielding 34 relevant studies for analysis. Results: The review found that pelvic floor rehabilitation, encompassing techniques such as pelvic floor exercises, biofeedback, electrical stimulation, and behavioral management, offers a non-invasive and cost-effective approach to improving continence outcomes. While the optimal timing and duration of rehabilitation remain debated, evidence supports initiating pelvic floor muscle training preoperatively and continuing postoperatively. Combining multiple rehabilitation techniques, particularly manual therapy with biofeedback or functional electrostimulation, appears to yield the best results in accelerating continence recovery. Preoperative rehabilitation showed mixed outcomes, with some studies reporting improved continence and others finding no additional benefit. Postoperative rehabilitation strategies varied, but generally focused on gradually increasing pelvic floor strength and control. The long-term efficacy of rehabilitation at 12 months post-surgery was comparable to no intervention in some studies. Conclusion: While pelvic floor rehabilitation demonstrates modest effectiveness in managing post-prostatectomy urinary incontinence, particularly in the short term, further research is needed to establish optimal protocols and long-term benefits. These findings underscore the importance of a comprehensive, patient-centered approach to post-prostatectomy care.

Using the ClinFIT COVID-19 Instrument to Assess the Functional Impairments Specific to Post-COVID-19 Patients in Romania.

The COVID-19 pandemic has led to approximately 3.5 million cases in Romania, causing systemic inflammation and over 200 symptoms affecting various body systems. This complexity has challenged rehabilitation systems, necessitating personalized plans tailored to each patient's illness stage and impairment level. The ISPRM-developed ClinFIT COVID-19 instrument, aligned with the ICF categories, assists in assessing patients during acute, post-acute, and long-term phases. This study aimed to evaluate and assess functional impairments in post-COVID-19 patients in Romania, with a secondary goal of generating rehabilitation directions. Data were collected from patients at two Bucharest medical centers, including those with persistent symptoms post-acute phase. Participants were assessed using the adapted ClinFIT COVID-19 instrument, and descriptive statistics were applied. Findings revealed diverse functional impairments in physical, psychological, and social domains among post-COVID-19 patients, with severe impairments more common in those with long-term COVID-19. Complete impairment in complex movement and paid work was noted, affecting one-third of salaried employees and forcing some to retire. In the acute phase, the most frequent functional impairments were sleep, attention, pain sensation, and exercise tolerance functions. In contrast, the most severely affected functions were exercise tolerance and mobility joint functions. Age did not positively correlate with any of the analyzed functions. In the post-acute phase, sleep, energy, and drive functions remained the most frequently affected functions, while the most severely affected was, by far, the moving around function. In the post-acute period, respiratory and respiratory muscle functions strongly correlated with all tasks related to physical activity. In the long COVID-19 phase, remunerative employment was the most severely affected function, while attention functions remained the most frequently affected, similar to the acute phase. The ClinFIT COVID-19 instrument effectively captured these impairments, underscoring the need for comprehensive rehabilitation strategies.

MFRP variations cause nanophthalmos in five Chinese families with distinct phenotypic diversity.

Nanophthalmos is a congenital ocular structural anomaly that can cause significant visual loss in children. The early diagnosis and then taking appropriate clinical and surgical treatment remains a challenge for many ophthalmologists because of genetic and phenotypic heterogeneity. The objective of this study is to identify the genetic cause of nanophthalmos in the affected families and analyze the clinical phenotype of nanophthalmos with MFRP gene variation (Microphthalmia, isolated; OMIM#611040 and Nanophthalmos 2; OMIM#609549, respectively). Comprehensive ophthalmic examinations were performed on participants to confirm the phenotype. The genotype was identified using whole exome sequencing, and further verified the results among other family members by Sanger sequencing. The normal protein structure was constructed using Alphafold. Mutant proteins were visualized using pymol software. Pathogenicity of identified variant was determined by in silico analysis and the guidelines of American College of Medical Genetics and Genomics (ACMG). The relationship between genetic variants and clinical features was analyzed. Five nanophthalmos families were autosomal recessive, of which four families carried homozygous variants and one family had compound heterozygous variants in the MFRP gene. Both family one and family three carried the homozygous missense variant c.1486G>A (p.Glu496Lys) in the MFRP gene (Clinvar:SCV005060845), which is a novel variant and evaluated as likely pathogenic according to the ACMG guidelines and in silico analysis. The proband of family one presented papilloedema in both eyes, irregular borders, thickened retinas at the posterior pole, tortuous and dilated retinal vessels, and indistinguishable arteries and veins, while the proband of family three presented uveal effusion syndrome-like changes in the right eye. In families one and 3, despite carrying the same gene variant, the probands had completely different clinical phenotypes. The homozygous nonsense variant c.271C>T (p.Gln91Ter) (Clinvar:SCV005060846) of the MFRP gene was detected in family 2, presenting shallow anterior chamber in both eyes, pigmentation of peripheral retina 360° from the equator to the serrated rim showing a clear demarcation from the normal retina in the form of strips. Family four proband carried the homozygous missense variant c.1411G>A (p.Val471Met) in the MFRP gene (Clinvar:SCV005060847), family five proband carried compound heterozygous missense variants c.1486G>A (p.Glu496Lys) and c.602G>T (p.Arg201Leu) in the MFRP gene (Clinvar:SCV005060848), which is a novel variant and evaluated as likely pathogenic according to the ACMG guidelines and in silico analysis, and they all presented clinically with binocular angle-closure glaucoma, family four also had retinal vein occlusion in the right eye during the follow-up. In this study, pathogenic variants of the MFRP gene were detected in five nanophthalmos families, including two novel variants. It also revealed a distinct phenotypic diversity among five probands harboring variants in the MFRP gene. Our findings extend the phenotype associated with MFRP variants and is helpful for ophthalmologists in early diagnosis and making effective treatment and rehabilitation strategies.

Optimizing Total Knee Arthroplasty Rehabilitation With Telehealth Physical Activity Behavior Change Intervention: A Randomized Clinical Trial.

Conventional total knee arthroplasty (TKA) rehabilitation has little impact on sedentary lifestyles that have negative long-term health consequences. The purpose of this trial was to determine the effect of telehealth-based physical activity behavior change intervention on physical activity and functional outcomes following TKA. This study was a 2-arm, parallel randomized controlled superiority trial at a regional Veterans Affairs medical center. The participants were 92 US military veterans (mean age = 65.7 [SD =7.8] y) undergoing unilateral TKA. The Physical Activity Behavior Change (PABC) intervention included telehealth-based self-management training (10 30-minute sessions) delivered over 12weeks. The control intervention included telehealth-based health education sessions that matched PABC frequency and duration. Both groups participated in standardized conventional outpatient rehabilitation. Physical activity, measured as average daily step count, was the primary outcome. Secondary outcomes were Life-Space Assessment questionnaire, 30-Second Chair-Stand test, Timed "Up & Go" Test, 6-Minute Walk Test, Western Ontario and McMaster Universities Osteoarthritis Index, and Veterans RAND 12-Item Health Survey. The Self Efficacy for Exercise scale and daily time spent in different postures (sitting/lying, standing, stepping) were exploratory variables. Outcomes were measured at baseline (before surgery), mid-intervention (8weeks after surgery), after the intervention (14weeks after surgery; primary endpoint), and follow-up (38weeks after surgery). The PABC group had an estimated 931 (95% CI = 42-1819) more daily steps than the control group from baseline to 14weeks, though a between-group effect was not sustained at 38weeks. There were no group differences in secondary outcomes. Participants included only military veterans using Veterans Health Administration services. The intervention targeted self-management and did not include peer support. The PABC intervention improved physical activity for veterans recovering from unilateral TKA at 14weeks after surgery, though the effect was not sustained at 38weeks. Physical function improved with rehabilitation but was not different between groups, indicating that physical function was not a primary driver of physical activity behavior. Conventional TKA rehabilitation has a negligible effect on free-living physical activity, which is relevant to long-term health outcomes. This trial identified telehealth physical activity self-management as effective in addressing activity behaviors, separate from conventional rehabilitation strategies.