Search Results (45)

Background: Delirium is a common, underdiagnosed neuropsychiatric syndrome in older adults, associated with high mortality and functional decline. Given its multifactorial nature and overlap with frailty, radiological markers may improve risk stratification in the emergency department (ED). Methods: We conducted a retrospective study on a small sample of 30 patients diagnosed with delirium in the emergency department who had recently undergone brain, thoracic, or abdominal CT scans for unrelated clinical indications. Using post-processing software, we analyzed radiological markers, including coronary artery calcifications (to estimate vascular age), cerebral atrophy (via the Global Cortical Atrophy scale), and cachexia (based on abdominal fat and psoas muscle volumetry). Results: Five domains were identified as significant predictors of 12-month mortality in univariate Cox regression: vascular age, delirium etiology, cerebral atrophy, delirium subtype (hyperactive vs. hypoactive), and cachexia. Based on these domains, we developed an exploratory 10-point delirium score. This score demonstrated acceptable diagnostic accuracy for mortality prediction (sensitivity 0.93, specificity 0.73, positive predictive value 0.77, negative predictive value 0.91) in this limited cohort. Conclusions: While preliminary and based on a small, retrospective sample of 30 patients, this multidimensional approach integrating clinical and radiological data may help improve risk stratification in elderly patients with delirium. Radiological phenotyping, particularly in terms of vascular aging and sarcopenia/cachexia, offers objective insights into patient frailty and could inform more personalized treatment pathways from the ED to safe discharge home, pending further validation. Full article

Background: Spinal cord injury is a multisystem disease which compromises independence and quality of life; remote care models represent an opportunity for long-term management of complications. The aim of this study was to explore remote care models for chronic spinal cord injury patients. Methods: A systematic review of the literature was carried out. Five databases (PubMed, CINAHL, Web of Science, Cochrane Library, Google Scholar) were systematically explored with a time limit of five years. Included studies were assessed using Jadad Score and PEDro Scale. Results: Four RCTs were included in this systematic review. In all studies, multidisciplinary home care supported by technology were compared with in-person models. Remote care models were effective in managing pressure injury, infection, and muscle atrophy and improve quality of life. Conclusions: Remote care models can be a key tool for improving self-efficacy, decreasing hospitalizations and preventing long-term mortality. Full article

Spinal deformities, particularly thoracolumbar kyphosis, affect approximately one-third of patients with Parkinson’s disease (PD) and significantly impair their quality of life and mobility. Conventional treatments, including levodopa and surgical interventions, have limited efficacy, necessitating alternative therapies. In this report, a 76-year-old woman with PD and severe thoracolumbar kyphosis (TK: 77.7°; sagittal vertical axis [SVA]: 95.55 mm) experienced postural instability and gait impairment. She underwent integrative postural rehabilitation (acupuncture, pharmacopuncture, Chuna spinal manual therapy, thermotherapy, and bodyweight exercises). A 4-week inpatient treatment improved spinal alignment (TK: 61.1°; SVA: 77.84 mm), gait, postural stability (MDS-UPDRS score improved by 3 points), and functional outcomes, with reductions in the Oswestry Disability Index (70 to 31) and pain severity (Numeric Rating Scale: 50 to 40). No adverse events were observed. Integrative postural rehabilitation can mitigate paraspinal muscle atrophy and fatty infiltration by promoting protein synthesis, neurotrophic factor expression, and proprioceptive neuromodulation. Our literature review suggests that proprioceptive stimulation and exercise enhances postural stability and gait, aligning with the outcomes of this case. This report suggests that integrative rehabilitation may improve kyphotic deformities and related motor dysfunctions in patients with PD. Further research is warranted to validate the treatment’s efficacy and long-term benefits. Full article

Introduction: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset, X-linked, progressive neuromuscular disease caused by abnormal CAG trinucleotide expansion in the androgen receptor gene. Patients with SBMA report difficulty with falls on self-reported activities of daily living scales. To our knowledge, no study has examined the relationship between falls and common clinical measures of strength, balance, mobility, and disease biomarkers. We performed a cross-sectional analysis of an SBMA cohort. Objectives: The objectives of this study are as follows: (1) compare demographics, clinical measures, and biomarkers between patients who did and did not fall; (2) determine which measures best discriminate fallers from non-fallers; and (3) identify cutoff scores to detect patients with a higher fall risk. Design: Cross-sectional analysis was used. Outcome Measures: Disease biomarkers included blood serum creatinine, and clinical measures included the Timed Up and Go (TUG), the Adult Myopathy Assessment Tool (AMAT), and posturography, including the Modified Clinical Test of Sensory Interaction on Balance and the Motor Control Test. The Maximal Voluntary Isometric Contractions (MVICs) of four lower extremity muscles were captured via fixed-frame dynamometry. Results: We identified three clinical measures that help detect fall risk in people with SBMA. A post hoc receiver operating characteristic curve analysis helped identify cut scores for each test. Impairments of mobility (TUG > 8 s), muscle endurance (AMAT endurance subscale < 14), and muscle strength (ankle plantar flexion MVIC < 45% of predicted) were different between fallers and non-fallers, via independent t-tests. Conclusions: These three clinical tests can help detect fall risk that may help clinicians implement gait aid use or other fall prevention strategies before catastrophic falls occur. Full article

Background: Spinal muscular atrophy (SMA) is a disease that leads to muscle weakness and significantly affects the lives of both patients and caregivers. This study aims to compare quality of life, caregiver burden, symptoms of depression and anxiety, life satisfaction, and mental well-being between parents of children with SMA and those of healthy children. Methods: This cross-sectional study included parents of children under 18 years old, both healthy and diagnosed with SMA. The participants completed the WHOQOL-BREF, Zarit Caregiver Burden Scale (ZCBS), Hospital Anxiety and Depression Scale (HADS), Satisfaction with Life Scale (SWLS), and the Flourishing Scale (FS). In addition, the relationships among these measures were analyzed. Results: Our study showed that the parents of children with SMA had significantly higher scores across all subscales of the WHOQOL-BREF (p = 0.004, p = 0.009, p = 0.007, p < 0.001) and the HADS depression subscale (p = 0.005). However, no significant differences were found between the groups in terms of the ZCBS, the HADS anxiety subscale (p = 0.802), SWLS (p = 0.251), or FS (p = 0.929) scores. Additionally, the ZCBS and HADS anxiety scores were significantly higher among parents of children with SMA type 1 compared to those with type 3 (p = 0.010 and p = 0.037, respectively). Lastly, a moderate positive correlation was found between the ZCBS and the HADS anxiety subscales (r = 0.632, p < 0.001). Conclusions: This study highlights the decline in quality of life and increased depression symptoms among parents of children with SMA, suggesting the need for psychiatric evaluation and additional support for those caregivers. Full article

Background/Objectives: Oropharyngeal dysphagia (OD) is a prevalent symptom in patients with neuromuscular diseases (NMDs) and increases the risk of aspiration and malnutrition. Malnutrition is frequent in these patients and is not only related to dysphagia, but also generates a vicious circle that may result in worsening muscle atrophy and weakness. Texture modification is required to ensure safe and efficient swallowing. This study evaluates the acceptability of a ready-to-mix oral nutritional supplement (ONS) containing high-quality protein and a xanthan-based thickener in patients with OD and NMDs. Methods: This cross-sectional study includes adult patients with NMDs and OD who received a xanthan gum-based protein ONS. Patients completed a questionnaire to rate their satisfaction with the ONS. Results: Seventy-two patients were included (median age = 56 years; 51% were males). The percentage of patients with moderate-to-severe OD who rated the taste, consistency, and product quality as acceptable-to-very-satisfactory (score 3–5) were 76%, 80%, and 84%, respectively. After three months, 93% of patients continued consuming the ONS. Conclusions: Our findings support that the use of protein xanthan gum-based ONS can be as a palatable and an effective nutritional intervention, given their high satisfaction and acceptance rates among patients with NMDs and OD. Full article

Background: As the number of individuals diagnosed with neurodegenerative disorders (NDs) rises, there is a growing need to enhance both the quantity and quality of approaches used to treat these debilitating conditions. The progression of NDs can cause muscle weakness in the lower or upper limbs. We particularly focus on the area of the upper limb, specifically grip rehabilitation, by developing a system (VRGrip) that can reliably record electromyography (EMG) events of the hand flexor muscles to control an adaptive and engaging game using grip exertion. The purpose of this study was to determine the feasibility of using the VRGrip system. Methods: We prototyped a three-component wearable system consisting of an e-textile forearm band (E-band), data acquisition module (DAM), and a computer game. This allows participants to play a game by squeezing their dominant hand. A feasibility study was completed with 9 individuals who self-reported an ND (including Parkinson’s disease (PD), amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Charcot–Marie–Tooth disease (CMT), spinal muscular atrophy (SMA), and essential tremor (ET)) and 12 individuals who self-reported to be relatively healthy (RH). Each participant completed 15 min of gameplay (three trials of five minutes), where they would squeeze a resistive ball to trigger in-game actions. The user experience was then evaluated via a User Satisfaction Evaluation Questionnaire (USEQ; scored 0–30, with 30 being best). Results: Analysis of the grip detection reliability during the feasibility study resulted in an F1 score of 0.8343 ± 0.1208 for the healthy participant group and 0.8401 ± 0.1034 for the ND participant group. The USEQ (Avg. score: 4.65 ± 0.51) indicated that participants found the system comfortable, engaging, and enjoyable. Additionally, we potentially identified age-related changes in muscle fatigue. Conclusion: The results of this study demonstrate that our VRGrip system could be used for hand grip detection in a virtual environment. In the future, we aim to conduct longitudinal studies to determine if repeated use of the system has merit for grip rehabilitation. Full article

Background: Articular damage is a marker of hereditary hemophilia, especially affecting the large joints of the upper and lower limbs. This retrospective study aimed to emphasize that hereditary coagulopathies, specifically hemophilia A and B, require a multidisciplinary approach due to their complex nature. The primary objectives of the paper are to determine the prevalence of hemophilic arthropathy among individuals with hemophilia in the northeastern region of Romania, identify the most frequently affected joints, and assess whether there is a correlation between the development of hemophilic arthropathy, the type of hemophilia, and the treatment received. The secondary objectives of the work are to identify a series of particularities regarding the occurrence of the comorbidities depending on the type of hemophilia and the treatment and severity of arthropathies. Materials and Methods: We conducted a retrospective study that included 36 adults with hemophilia A and B. The status of the osteoarticular system was evaluated using the modified Hemophilia Joint Health Score (mHJHS). Twelve joints were evaluated using the following parameters: swelling, duration of swelling, muscle atrophy, joint pain, crepitus on motion, flexion loss, and extension loss. Results and Discussions: The most severe damage was found in the joints of the knees, ankles, elbows, and wrists. In the knees, severe damage was noted significantly more frequently in the right knee (50% vs. 33.3%; p = 0.001). In the ankles, a higher frequency of mild damage to the left ankle was noted (44.4% vs. 27.8%; p = 0.002). The severe form of hemophilia was correlated with severe joint damage (p < 0.05). Comorbidities like cardiovascular disease, obesity, viral infection (HCV infection), and gastrointestinal disease were found in the hemophilia population of our study. All patients with HCV infection had severe joint damage, while 38.5% of patients without HCV infection had mild joint damage, and 30.8% had no joint damage (p = 0.001). In all patients with HCV virus infection, the treatment was short-term substitution (intermittent prophylaxis), while in 53.8% of patients without HCV virus infection, the treatment consisted of continuous prophylaxis (p = 0.001). Conclusions: It is currently essential to determine methods for comprehensive hemophilia care that involves multidisciplinary medical services necessary for the diagnosis, treatment, and management of the condition and its complications and comorbidities. Full article

Background/Objectives: Nusinersen is a disease-modifying drug for spinal muscular atrophy (SMA) that improves motor function. However, its effects on the skeletal muscles remain unclear. This study aimed to assess the intramuscular fat fraction in patients with SMA types II and III using muscle magnetic resonance imaging (MRI) and to explore the relationship between muscle tissue, lipid metabolism, and motor function during nusinersen treatment. Methods: This study included seven pediatric patients with SMA types II and III who received nusinersen treatment. Muscle MRIs were performed at three time points. Images of the central thigh were used to measure the cross-sectional area (CSA) and muscle fat area, and the intramuscular fat fraction (IMFF) was calculated. The thigh muscles were categorized into three groups: quadriceps, adductor, and hamstrings. Results: The median (range) of total IMFF for SMA type II and III at T-0, T-2, and T-4 were 18.5 (12.6–48.4), 24.4 (10.1–61.4), and 39.0 (30.0–68.6) % and increased over time. In five patients whose motor function was evaluated, a moderate negative correlation was observed between the changes in the Hammersmith Functional Motor Score Expanded (HSFME) and IMFF (r = −0.51). No significant changes in serum triglyceride or total cholesterol levels were observed during treatment. Conclusions: An increase in IMFF was associated with a decline in motor function. The baseline IMFF score was related to improvements in motor function scores, suggesting that the IMFF of the thigh muscle may serve as a novel, objective, and quantitative skeletal muscle-related biomarker for predicting the effects of nusinersen on muscle tissue. Full article

Background/Objectives: This study aimed to identify the risk factors for retears after arthroscopic rotator cuff repair (ARCR) and to establish a hierarchy of their importance using machine learning. Methods: This study analyzed 788 primary ARCR cases performed by a single senior surgeon from January 2016 to December 2022. The condition of the repaired supraspinatus was assessed via magnetic resonance imaging (MRI) or sonography within 2 years after surgery. In total, 27 preoperative demographic, objective, and subjective clinical variables were analyzed using five well-established models: Extreme Gradient Boosting (XGBoost), Random Forest (RF), Support Vector Machine (SVM), Neural Network (NN), and logistic regression (LR). The models were trained on an 8:2 split training and test set, with three-fold validation. The primary metric for evaluating model performance was the area under the receiver operating characteristic curve (AUC). The top five influential features were extracted from the best-performing models. Univariate and multivariate LRs were performed independently as a reference. Results: The overall retear rate was 11.9%. The two best-performing prediction models were RF (validation AUC = 0.9790) and XGBoost (validation AUC = 0.9785). Both models consistently identified the tear size in the medial–lateral (ML) and anterior–posterior (AP) dimensions, full-thickness tears, and BMI among the top five risk factors. XGBoost uniquely included female sex, while RF highlighted the visual analogue scale (VAS) pain score. While conventional univariate regression indicated multiple significant factors associated with retears (age, full-thickness tear, AP and ML tear size, biceps conditions, fatty infiltration of three rotator cuff muscles, and atrophy of supraspinatus), multivariate analysis demonstrated that only age and the ML tear size are significant factors. Conclusions: Machine learning models demonstrated enhanced predictive accuracy compared to traditional LR in predicting retears, and the importance of risk factors was derived. Tear size, full-thickness tears, BMI, female sex, and VAS pain score emerged as the most influential risk factors. Full article

Background: Disorders of Consciousness (DoC) following acute brain injuries, such as intracerebral hemorrhage, present significant clinical challenges in intensive care and rehabilitation settings. Early multidisciplinary interventions, including physiatric care, are critical in optimizing recovery trajectories. However, evidence regarding the timing and intensity of rehabilitation interventions remains limited. This case report highlights the role of physiatrists in managing a critically ill patient with a DoC in an Intensive Care Unit (ICU), focusing on early rehabilitation strategies and individualized care planning. Case presentation: A 63-year-old male with a history of hypertension and cardiac disease presented with a left hemispheric hemorrhage and quadriventricular intraventricular hemorrhage. The patient was admitted to the ICU in a comatose state (Glasgow Coma Scale [GCS] 5). Initial physiatric evaluation revealed a critical condition precluding immediate initiation of an Individual Rehabilitation Project (IRP). Over subsequent weeks, clinical improvements were observed, including an increased GCS and Coma Recovery Scale-Revised (CRS-R) score. A tailored IRP was implemented, emphasizing passive mobilization to prevent complications such as muscle atrophy, joint contractures, and pressure ulcers. The patient demonstrated gradual progress, transitioning to a Minimally Conscious State (MCS) and achieving improved joint mobility and reduced peripheral edema. Discussion and Conclusions: This case underscores the pivotal role of physiatrists in ICU settings, particularly for patients with DoC. Early physiatric interventions, even in critically ill patients, can prevent secondary complications and facilitate functional recovery. Close collaboration with ICU teams and infectious disease specialists ensured the safe implementation of rehabilitation strategies despite the patient’s severe condition. The observed clinical improvements highlight the potential benefits of early mobilization and individualized care plans, both in terms of survival (quoad vitam) and quality of life (quoad valetudinem). This report emphasizes the need for further research to refine rehabilitation practices for patients with DoC, bridging gaps between acute care and neurorehabilitation. Full article

Background/Objectives: Sarcopenia, characterized by reduced muscle mass and strength, is associated with osteoarthritis (OA), particularly in middle-aged women, and may worsen postoperatively. Resistance exercise (RE) can resolve sarcopenia; however, recovery is often suboptimal. Nitrate (NO₃⁻) supplementation may enhance muscle recovery and complement RE. We investigated whether NO₃⁻ supplementation combined with RE improves thigh muscle mass and strength in middle-aged women during postoperative rehabilitation. Methods: We conducted a prospective randomized placebo-controlled double-blind study including 36 middle-aged women with sarcopenia and cartilage defects undergoing mesenchymal stem cell implantation. Participants were assigned to RE with NO₃⁻ supplementation (NG, n = 18) or with placebo (PG, n = 18) groups. Both groups underwent 12 weeks of supervised RE. The primary outcomes were thigh muscle cross-sectional area (CSA) and knee strength, whereas functional and clinical measures, including the Short Physical Performance Battery (SPPB), skeletal muscle index (SMI), International Knee Documentation Committee (IKDC), and Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC) scores, were secondary outcomes. Results: Thigh muscle CSA decreased in the PG but was maintained in the NG. Knee extension strength improved significantly in the NG compared with that in the PG at 6 and 12 weeks. Knee flexion strength also improved rapidly in the NG, with a significant increase at 6 weeks. SPPB and IKDC scores improved significantly in the NG. However, similar improvements were observed for WOMAC scores in both groups. Conclusions: NO₃⁻ supplementation combined with RE effectively prevented muscle atrophy and enhanced muscle strength in our study participants, indicating potential for improving postoperative recovery. Full article

Background/Objectives: Preoperative muscle atrophy leads to persistent gait abnormalities in patients undergoing total hip arthroplasty (THA). Efficient motor learning of the gluteus medius is crucial for their recovery. In this study, a single-joint hybrid assistive limb (HAL) was developed to assist hip abduction. We aimed to evaluate the muscle activity and safety of this device during hip abduction in healthy adults. Methods: Ten healthy adults (five males and five females; mean age, 40.7 years) with no hip disorders performed one set of 30 repetitions of side-lying hip abduction under three conditions: without HAL (pre-HAL), with HAL, and without HAL (post-HAL). Muscle activities of the gluteus medius, gluteus maximus, tensor fasciae latae, rectus femoris, and biceps femoris (expressed as percentage of maximum voluntary contraction [%MVC]); vital signs; hip visual analog scale (VAS); and hip abduction and flexion angles were assessed. The mean values were compared among the conditions. Results: The %MVC of the gluteus medius significantly increased from 52% (pre-HAL) to 75.4% (HAL) and then decreased slightly to 61.6% (post-HAL). No other muscle groups showed significant changes. Vital signs and hip VAS scores showed no significant variation. Although no significant differences were found in the hip abduction and flexion angles, a reduction in the hip flexion angle was observed in the HAL and post-HAL conditions. Conclusions: The hip abduction HAL effectively and safely enhanced gluteus medius activity. Reduction in the hip flexion angle during HAL and post-HAL suggests the possibility of appropriate abduction movements and motor learning effects. Full article

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the epigenetic de-repression of the double homeobox 4 (DUX4) gene, leading to asymmetric muscle weakness and atrophy that begins in the facial and scapular muscles and progresses to the lower limbs. This incurable condition can severely impair muscle function, ultimately resulting in a loss of ambulation. A thorough analysis of molecular factors associated with the varying degrees of muscle impairment in FSHD is still lacking. This study investigates the molecular mechanisms and biomarkers in the biceps brachii of FSHD patients, classified according to the FSHD clinical score, the A-B-C-D classification scheme, and global proteomic variation. Our findings reveal distinct metabolic signatures and compensatory responses in patients. In severe cases, we observe pronounced metabolic dysfunction, marked by dysregulated glycolysis, activation of the reductive pentose phosphate pathway (PPP), a shift toward a reductive TCA cycle, suppression of oxidative phosphorylation, and an overproduction of antioxidants that is not matched by an increase in the redox cofactors needed for their function. This imbalance culminates in reductive stress, exacerbating muscle wasting and inflammation. In contrast, mild cases show metabolic adaptations that mitigate stress by activating polyols and the oxidative PPP, preserving partial energy flow through the oxidative TCA cycle, which supports mitochondrial function and energy balance. Furthermore, activation of the hexosamine biosynthetic pathway promotes autophagy, protecting muscle cells from apoptosis. In conclusion, our proteomic data indicate that specific metabolic alterations characterize both mild and severe FSHD patients. Molecules identified in mild cases may represent potential diagnostic and therapeutic targets for FSHD. Full article

Background: Spinal muscular atrophy (SMA) is an inherited neuromuscular disease characterized by progressive muscle weakness and atrophy due to the absence of the survival motor neuron 1 (SMN1) gene. SMA is classified into types 0 through 4 based on the age of symptom onset and the severity of motor function decline. Recent advances in SMA treatment, including nusinersen, onasemnogene abeparvovec, and risdiplam, have significantly improved the prognosis of SMA patients. This study evaluated the safety and efficacy of nusinersen in pediatric patients with SMA types 1, 2, and 3 in a real-world clinical setting. Methods: This prospective observational single-center study assessed the treatment effects of nusinersen in 23 pediatric patients with genetically confirmed SMA over a 22-month observation period. All the participants received intrathecal loading doses of 12 mg of nusinersen on days 1, 14, 28, and 63, followed by maintenance doses every four months. Functional assessments were conducted using the CHOP-INTEND scale. Data were collected during routine patient visits, including clinical laboratory tests and vital sign parameters, and adverse events were recorded. The inclusion criteria were defined by the national reimbursement program for nusinersen treatment in Poland. Results: Initially, 37 patients ranging from 1 month old to 18 years old were included, but 23 were ultimately observed due to changes in treatment regimens or assessment scales. The patients showed significantly improved CHOP-INTEND scores over the 22-month period. At 6 months, the average increase was 4.2 points, continuing to 17.8 points at 22 months. By the end of the study, 100% of patients showed either stabilization or improvement, with significant clinical improvements observed in several patients. Nusinersen was generally well-tolerated, with post-lumbar puncture headache and lower back pain being the most common adverse events. Conclusions: Nusinersen treatment significantly enhances motor function in pediatric patients with SMA types 1, 2, and 3. This study demonstrates the importance of early and sustained treatment, with most patients showing the continuous improvement or stabilization of motor function. These findings support the use of nusinersen as an effective therapy for SMA; however, further research is needed to understand the long-term outcomes and optimize treatment strategies. Full article