Evaluation of bone health in terms of osteoporosis in adult patients with neuromuscular disease.

Background/aim: There are no current guidelines to help clinicians decide whether patients with adult neuromuscular disease (NMD) should be screened or treated for osteoporosis (OP). This study was undertaken to investigate the presence of OP in patients with various types of NMD and to examine the relationship between OP evaluation parameters and functional status, daily living activities, balance, and ambulation levels. Materials and methods: This cross-sectional study included 45 patients with NMDs. The patients were divided into 3 groups, depending on the affected component of the motor unit (neuronopathy group, neuropathy group, and myopathy group). The laboratory and demographic data were recorded from patient files. Functional level, pain, muscular strength, balance, and daily living activity scores were evaluated. The presence of OP was quantified using bone densitometry, fracture history, and biochemical parameters. Clinical findings were correlated with laboratory and dual-energy X-ray absorptiometry (DEXA) findings. Results: The mean hip T-score was -1.20, and the mean lumbar spine (L1-L4) T-score was -0.95 in all groups. Six patients with T-score values of -2.5 or below were detected. Vitamin D level was found to be low in all patient groups, especially in the myopathy group, but there was no significant difference (p > 0.05). There was a negative correlation between hip T-score and the frequency of falling (r = -0.604, p = 0.022), while a positive correlation was found between hip T-score and the age at which independent walking was no longer possible (r = 0.900, p = 0.037). Conclusion: OP is often overlooked in NMD patients with neurological problems and a high risk of falling. These patients should be screened for bone health and fragility.

Intramuscular botulinum toxin-A in complex regional pain syndrome resistant to standard treatment: a case report.

OBJECTIVE: To present a patient with complex regional pain syndrome type 1 (CRPS-I) and improvement of contracture of hand muscles and grip strength after successful treatment with botulinum neurotoxin­A (BoNT-A). CASE: A 53-year-old woman with CRPS­I experienced severe allodynia, swelling and autonomic changes in the left hand after a distal radius fracture. Over the succeeding months, she developed contracture of the left hand muscles which was treated with injection of BoNT­A into the hand muscles (10 points). RESULTS: In the patient treatment with BoNT­A an improvement was seen in the hand range of motion (ROM) and grip strength. CONCLUSION: Successful results can be obtained with BoNT­A injection in treatment-resistant CRPS­I cases which may develop joint contracture.

Comparison of Single Cell Transcriptome Sequencing Methods: Of Mice and Men.

Single cell RNAseq has been a big leap in many areas of biology. Rather than investigating gene expression on a whole organism level, this technology enables scientists to get a detailed look at rare single cells or within their cell population of interest. The field is growing, and many new methods appear each year. We compared methods utilized in our core facility: Smart-seq3, PlexWell, FLASH-seq, VASA-seq, SORT-seq, 10X, Evercode, and HIVE. We characterized the equipment requirements for each method. We evaluated the performances of these methods based on detected features, transcriptome diversity, mitochondrial RNA abundance and multiplets, among others and benchmarked them against bulk RNA sequencing. Here, we show that bulk transcriptome detects more unique transcripts than any single cell method. While most methods are comparable in many regards, FLASH-seq and VASA-seq yielded the best metrics, e.g., in number of features. If no equipment for automation is available or many cells are desired, then HIVE or 10X yield good results. In general, more recently developed methods perform better. This also leads to the conclusion that older methods should be phased out, and that the development of single cell RNAseq methods is still progressing considerably.

Factors influencing the willingness to participate in rehabilitation in patients with subacute stroke.

OBJECTIVE: The aim of this study was to examine the parameters that may influence the willingness of patients to participate in post-stroke rehabilitation. METHODS: Patients in the subacute phase of stroke who underwent inpatient rehabilitation for one month were included in this study. The primary outcome measure was the level of rehabilitation participation as measured on the Pittsburgh Rehabilitation Participation Scale (PRPS). Other outcome measures evaluated were Mini-Mental State Examination (MMSE) for cognitive functions, Brunnstrom stage for motor recovery, modified Rankin Scale (mRS) for disability, Functional Independence Measure for functionality, Pittsburgh Sleep Quality Index for sleep quality, and Beck Depression Inventory for emotional state. RESULTS: A total of 38 patients with first-time stroke were studied. A negative correlation was found between the participation in rehabilitation and body mass index (BMI) (r: -0.398p = 0.012), myocardial infarction (MI) history (r: -0.387p = 0.015) and mRS (r: -0.351p = 0.031), while a positive correlation was determined with MMSE (r: 0.432P = 0.007). A 1-unit increase in BMI, MI history, and mRS resulted in a 0.176, 0.673, and 0.294-unit decrease in participation in rehabilitation, respectively. In addition, a 1-unit increase in MMSE provided an increase of 0.606-unit in participation. CONCLUSION: BMI within normal limits, prevention/treatment of cardiovascular diseases, and well-being of physical and cognitive functions might be the factors that positively influence participation in rehabilitation process. We consider that it would be appropriate to evaluate these parameters with particular emphasis in stroke patients in the subacute period to be rehabilitated.

Three-year follow-up outcomes of adult patients with Guillain-Barré Syndrome after rehabilitation.

Background: Guillain-Barré syndrome (GBS), the most common cause of acute paralytic neuropathy, covers a number of recognizably different variants. We aimed to evaluate the clinical characteristics of the patients with GBS and the outcome results of the patients after rehabilitation. Methods: We enrolled 24 adult patients with GBS and evaluated their demographic characteristics, signs, complications, functional levels, and residual symptoms at admission, discharge, and during the 1st and 3rd-year follow-up visits. Functional Independence Scale (FIM), Functional Ambulation Scale (FAS), Hughes functional grading scale, Six-Minute Walking Test (6MWT), and Fatigue Severity Scale (FSS) were used for patient evaluation. Results: In this study, patients with a mean age of 47.29 ± 16.2 years (40% female) were hospitalized for an average of 28.91 ± 25.6 days. The predominant symptoms experienced by these patients were fatigue (100%), neuropathic pain (70.8%), joint pain (54.2%), and autonomic dysfunction (50%). Significant changes were observed in FIM, Hughes functional grading scale, FAS, 6MWT, and MRC score at admission, discharge, and 1st/3rd-year follow-ups (p=0.000, p=0.000, p=0.000, p=0.001, p=0.000, respectively). Fatigue and Hughes score increased significantly with age (p=0.019, r=0.475; p=0.041, r=0.419, respectively). Negative correlations were found between age and FAS, 6MWT, and MRC score at 1st-year follow-up (p=0.025, r=-0.456; p=0.027, r=-0.450; p=0.008, r=-0.528). FSS was above 4 before admission and in 53.1% at 3rd-year follow-up, correlating negatively with 6MWT and MRC sum score. GBS clinical types showed no significant differences. Conclusion: Rehabilitation improves functional improvement in GBS patients, with long-term benefits observed. However, residual symptoms such as fatigue and neuropathic pain may persist despite functional improvement. These findings highlight the importance of incorporating rehabilitation into the management of GBS and addressing residual symptoms to improve patient outcomes.

Effectiveness of kinesiotape and sham kinesiotape application in children with cerebral palsy with dysphagia: A randomized controlled study.

Objectives: This study aimed to investigate the short- and long-term effects of kinesiotaping (KT) on dysphagia in children with cerebral palsy (CP). Patients and methods: One hundred one CP patients (59 males, 42 females; mean age: 49.3±18.8 years; range, 2 to 6 years) with dysphagia referred between October 2017 and January 2020 were enrolled in the randomized controlled study. Children who met the study criteria were randomly assigned to the kinesiotape group (n=54) or the sham group (n=47). Specific swallowing evaluations were performed on all patients before the therapy. The KT or sham application protocole combined with conventional rehabilitaion therapy was conducted for six weeks. Evaluation parameters were repeated at 6 and 18 weeks. The evaluated parameters were compared within and between groups. Results: Drooling, weak tongue movement, chewing difficulty, coughing/choking and retching/vomiting during/after feeding, functional oral intake score, and meal time were found to be significantly improved at six weeks in the kinesiotape group compared to the sham group, and the clinical improvements were present at 18 weeks (p<0.05). There was no statistically significant difference in any parameter in the sham group at 6 and 18 weeks compared to the pretreatment (p>0.05). Conclusion: The addition of KT to a home exercise program is an effective method for dysphagia in CP.

USP7 regulates the ncPRC1 Polycomb axis to stimulate genomic H2AK119ub1 deposition uncoupled from H3K27me3.

Ubiquitin-specific protease 7 (USP7) has been implicated in cancer progression and neurodevelopment. However, its molecular targets remain poorly characterized. We combined quantitative proteomics, transcriptomics, and epigenomics to define the core USP7 network. Our multi-omics analysis reveals USP7 as a control hub that links genome regulation, tumor suppression, and histone H2A ubiquitylation (H2AK119ub1) by noncanonical Polycomb-repressive complexes (ncPRC1s). USP7 strongly stabilizes ncPRC1.6 and, to a lesser extent, ncPRC1.1. Moreover, USP7 represses expression of AUTS2, which suppresses H2A ubiquitylation by ncPRC1.3/5. Collectively, these USP7 activities promote the genomic deposition of H2AK119ub1 by ncPRC1, especially at transcriptionally repressed loci. Notably, USP7-dependent changes in H2AK119ub1 levels are uncoupled from H3K27me3. Even complete loss of the PRC1 catalytic core and H2AK119ub1 has only a limited effect on H3K27me3. Besides defining the USP7 regulome, our results reveal that H2AK119ub1 dosage is largely disconnected from H3K27me3.

The effect of robotic rehabilitation on posture and trunk control in non-ambulatory cerebral palsy.

The purpose of this study was to investigate the effects of a combined robot-assisted gait training (RAGT) with standard physiotherapy (PT) on trunk control and posture in non-ambulatory children with cerebral palsy (CP). This nonrandomized, controlled study included 31 CP assigned into two groups. Study Group: RAGT (three times a week, 30 min/session, for 6 weeks) + PT. Control group: PT only. The patients were evaluated using gross motor function measure (GMFM)-88 (Section B, Sitting) and Trunk Impairment Scale (TIS), pre-treatment and 3rd month post-treatment. In the RAGT group, significant improvements were observed in the GMFM-B and TIS scores at the 3rd month post-treatment (p < 0.05). Comparison of the changes in GMFM-B and TIS scores from end to beginning of the study, the change in TIS static are significantly higher in the RAGT group than control group (p < 0.05). Addition of RAGT to standard physiotherapy seems to improve trunk control, sitting balance, and posture in non-ambulatory CP.

Functional electrical stimulation cycling in patients with chronic spinal cord injury: a pilot study.

OBJECTIVE: To examine the therapeutic value of lower extremity functional electrical stimulation (FES) - evoked cycling on functional independence, health status, gait parameters, pulmonary functions, and biochemical values in patients with chronic complete/incomplete spinal cord injury (SCI). MATERIALS AND METHODS: Fifteen patients with SCI (duration of more than 6 months) who were able to stand up and walk with long leg braces or assistive devices and had stable neurological status and trunk balance undertook FES cycling for 6 weeks (three times per week). The main outcomes were: Functional Independence Measure (FIM), Nottingham Health Profile (NHP), 6-minute walk test (6MWT), and 20-meter walk test (20MWT). Secondary outcomes include measurements of pulmonary function tests and biochemical values. All parameters were evaluated at the beginning and end of the program. RESULTS: Improvements were seen in motor and total scores of FIM (p = 0.007), physical mobility subscale of NHP (p = 0.011), 6MWT (p = 0.001), and 20MWT (p = 0.011). In pulmonary functions, only forced vital capacity (FVC) levels demonstrated a significant increase compared with baseline (p = 0.011). Biochemical values reached no significant level. CONCLUSION: The results of this study showed that the FES cycling exercise program improves motor and total FIM scores, gait parameters, and FVC values of pulmonary functions in patients with chronic SCI experience. The FES cycle might be a valuable and well-tolerated intervention in clinical rehabilitation.

CTCF chromatin residence time controls three-dimensional genome organization, gene expression and DNA methylation in pluripotent cells.

The 11 zinc finger (ZF) protein CTCF regulates topologically associating domain formation and transcription through selective binding to thousands of genomic sites. Here, we replaced endogenous CTCF in mouse embryonic stem cells with green-fluorescent-protein-tagged wild-type or mutant proteins lacking individual ZFs to identify additional determinants of CTCF positioning and function. While ZF1 and ZF8-ZF11 are not essential for cell survival, ZF8 deletion strikingly increases the DNA binding off-rate of mutant CTCF, resulting in reduced CTCF chromatin residence time. Loss of ZF8 results in widespread weakening of topologically associating domains, aberrant gene expression and increased genome-wide DNA methylation. Thus, important chromatin-templated processes rely on accurate CTCF chromatin residence time, which we propose depends on local sequence and chromatin context as well as global CTCF protein concentration.

The importance of lower extremity involvement type on exercise performances, function, and quality of life in peripheral predominant forms of juvenile idiopathic arthritis.

BACKGROUND: Juvenile idiopathic arthritis (JIA) can cause reduced exercise capacity, deterioration in functional activities, and poor health-related quality of life. This study aims to objectively reveal lower extremity involvement in the peripheral predominant forms of juvenile idiopathic arthritis through qualitative evaluations and to determine the effects of these involvements on exercise, function, and quality of life. METHODS: Thirty-two patients with a history of peripheral arthritis and aged between 7 and 16 years participated in the study. Demographics, JIA subtype, disease duration, arthritis and deformities of the lower extremity, disease activity score, 6-min walk test (6MWT), cycling exercise test (CYC-E), childhood health assessment questionnaire (CHAQ), and pediatric quality of life inventory (PedsQoL) scores were recorded. In case of clinical suspicion of arthritis, an ultrasonographic examination was performed for a definitive diagnosis. Regression analyses were performed to explore the most associated lower extremity involvement and patient characteristics for each of the dependent variables including 6MWT, CYC-E, CHAQ, and PedsQoL. RESULTS: Of the total number of patients, with a mean age of 12.91 (SD 2.37) years, 28.1% had knee arthritis, 15.6% foot arthritis, 12.5% hip arthritis, and 37.5% lower extremity deformity. The parameters that were most associated with CHAQ and PedsQoL were hip and knee arthritis, whereas CYC-E was found to be most associated with knee arthritis and height, and 6MWT was found to be most associated with hip arthritis, knee arthritis, and demographic characteristics. CONCLUSION: This study emphasizes the importance of hip and knee arthritis, which are among the determinants of walking endurance, function, and quality of life; and knee arthritis, which is among the determinants of cycling performance in JIA with lower extremity involvement.

A short-term exercise program in patients with multiple sclerosis: is body mass index important?

Obesity is a health problem that can exacerbate the symptoms of multiple sclerosis (MS). In the current study, we aimed to investigate the effectiveness of a short-term exercise program on fatigue, depression, anxiety, and walking performance in normal-weight and overweight patients with MS (PwMS). Sixty-two PwMS were divided into groups according to their BMI (BMI normal/BMI high). Also, they were all included in the exercise program. The participants took a moderate-intensity walking program 5 days a week for 4 weeks, including 30 min between 5 min of warm-up and 5 min of cooling periods. Also, patients underwent breathing, posture, flexibility, and stretching exercises for 4 weeks. Fatigue, depression, anxiety, 6-minute walking test (6MWT), and BMI were measured before and after the 4 weeks. After the exercise program, there were statistically significant improvements in fatigue, depression, anxiety, and the 6MWT. However, no relation could be detected between the examined variables and BMI. All patients participated effectively in the exercise program, regardless of BMI. The results obtained from this study support that a short-term exercise program is an effective therapeutic intervention, unrelated to BMI, in improving fatigue, depression, anxiety, and walking performance in PwMS.

Effectiveness of Functional Electrical Stimulation - Cycling Treatment in Children with Cerebral Palsy.

AIM: The purpose of this study was to evaluate the effects of functional electrical stimulation (FES) bicycle therapy system on motor function, gait pattern, spasticity, daily living activities, and aerobic capacity in children with cerebral palsy (CP) and to compare the results with sham stimulation and standard treatment. METHODS: Patients with cerebral palsy who received botulinum toxin type-A injections to lower extremities and those with Gross Motor Function Measure Classification System (GMFCS) levels I - III, were included in the study. Twenty-five patients were randomly assigned into three treatment groups for 4-weeks: Group 1, FES-cycling and standard treatment; Group 2, Sham stimulus FES-cycling and standard treatment; Group 3, Standard treatment. Clinical assessment tools included the Modified Ashworth Scale (MAS), Modified Tardieu Scale (MTS), Pediatric Functional Independence Measure (WeeFIM), GMFCS, Gross Motor Function Measure-88 (GMFM-88), selective motor control tests, 6-minute walk test, and Visual Gait Analysis (VGA). RESULTS: In all groups, there were significant improvements in MAS, MTS, WeeFIM, GMFM-88, 6-minute walk test, and VGA scores. No changes in GMFCS levels were observed in any group. At the end of the study, there was no significant difference among the groups in terms of any clinical assessment parameter. CONCLUSIONS: All groups showed statistically significant improvements in motor function, walking pattern, spasticity, daily living activities, and aerobic capacity in patients with CP following the rehabilitation period. Although FES-cycling demonstrated no superiority over the other approaches and provided no additional benefit to the results, FES appears to be safe and well-tolerated in children with CP, at least as much as standard exercise treatment.

Prevalence, etiology, and biopsychosocial risk factors of cervicogenic dizziness in patients with neck pain: A multi-center, cross-sectional study.

OBJECTIVES: This study aims to investigate the prevalence, etiology, and risk factors of cervicogenic dizziness in patients with neck pain. PATIENTS AND METHODS: Between June 2016 and April 2018, a total of 2,361 patients (526 males, 1,835 females; mean age: 45.0±13.3 years; range, 18 to 75 years) who presented with the complaint of neck pain lasting for at least one month were included in this prospective, cross-sectional study. Data including concomitant dizziness, severity, and quality of life (QoL) impact of vertigo (via Numeric Dizziness Scale [NDS]), QoL (via Dizziness Handicap Inventory [DHI]), mobility (via Timed Up-and-Go [TUG] test), balance performance [via Berg Balance Scale [BBS]), and emotional status (via Hospital Anxiety- Depression Scale [HADS]) were recorded. RESULTS: Dizziness was evident in 40.1% of the patients. Myofascial pain syndrome (MPS) was the most common etiology for neck pain (58.5%) and accompanied with cervicogenic dizziness in 59.7% of the patients. Female versus male sex (odds ratio [OR]: 1.641, 95% CI: 1.241 to 2.171, p=0.001), housewifery versus other occupations (OR: 1.285, 95% CI: 1.006 to 1.642, p=0.045), and lower versus higher education (OR: 1.649-2.564, p<0.001) significantly predicted the increased risk of dizziness in neck pain patients. Patient with dizziness due to MPS had lower dizziness severity scores (p=0.034) and milder impact of dizziness on QoL (p=0.005), lower DHI scores (p=0.004), shorter time to complete the TUG test (p=0.001) and higher BBS scores (p=0.001). CONCLUSION: Our findings suggest a significant impact of biopsychosocial factors on the likelihood and severity of dizziness and association of dizziness due to MPS with better clinical status.

The importance of lower extremity involvement type on exercise performances, function, and quality of life in peripheral predominant forms of juvenile idiopathic arthritis

Abstract Background: Juvenile idiopathic arthritis (JIA) can cause reduced exercise capacity, deterioration in functional activities, and poor health-related quality of life. This study aims to objectively reveal lower extremity involvement in the peripheral predominant forms of juvenile idiopathic arthritis through qualitative evaluations and to determine the effects of these involvements on exercise, function, and quality of life. Methods: Thirty-two patients with a history of peripheral arthritis and aged between 7 and 16 years participated in the study. Demographics, JIA subtype, disease duration, arthritis and deformities of the lower extremity, disease activity score, 6-min walk test (6MWT), cycling exercise test (CYC-E), childhood health assessment questionnaire (CHAQ), and pediatric quality of life inventory (PedsQoL) scores were recorded. In case of clinical suspicion of arthritis, an ultrasonographic examination was performed for a definitive diagnosis. Regression analyses were performed to explore the most associated lower extremity involvement and patient characteristics for each of the dependent variables including 6MWT, CYC-E, CHAQ, and PedsQoL. Results: Of the total number of patients, with a mean age of 12.91 (SD 2.37) years, 28.1% had knee arthritis, 15.6% foot arthritis, 12.5% hip arthritis, and 37.5% lower extremity deformity. The parameters that were most associated with CHAQ and PedsQoL were hip and knee arthritis, whereas CYC-E was found to be most associated with knee arthritis and height, and 6MWT was found to be most associated with hip arthritis, knee arthritis, and demographic characteristics. Conclusion: This study emphasizes the importance of hip and knee arthritis, which are among the determinants of walking endurance, function, and quality of life; and knee arthritis, which is among the determinants of cycling performance in JIA with lower extremity involvement.

Comparing the effectiveness of ultrasound guided versus blind genicular nerve block on pain, muscle strength with isokinetic device, physical function and quality of life in chronic knee osteoarthritis: a prospective randomized controlled study.

BACKGROUND: The genicular nerve block (GNB) is demonstrated from several reports to alleviate pain and improve knee functionality in patients with chronic knee osteoarthritis (OA). Ultrasound (US)-guided GNB has been the most used imaging method. This study aimed to compare the effectiveness of US-guided versus blind GNB in the treatment of knee OA. METHODS: This prospective, randomized clinical trial included patients with knee OA based on American College of Rheumatology diagnostic criteria. The patients were evaluated for clinical and dynamometer parameters at the baseline, 4 weeks after treatment, and 12 weeks after treatment. The patients underwent blind injection or US-guided injection. RESULTS: When compared with the baseline, both groups showed significant improvement in pain, physical function, and quality of life parameters. Significant differences were observed between the groups for clinical parameters (30-second chair stand test, 6-minute walk test) in favor of the US-guided group. On the other hand, blind injection was more significantly effective on some parameters of the Nottingham Health Profile. There wasn't any significant improvement in isokinetic muscle strength for either group. CONCLUSIONS: This study demonstrated that both US-guided and blind GNB, in the treatment of knee OA, were effective in reducing symptoms and improving physical function. GNB wasn't an effective treatment for isokinetic muscle function. USguided injections may yield more effective clinical results than blind injections.

Acute bilateral foot drop in a chronic alcoholic patient.

Peroneal palsy is compression neuropathy of the peroneal nerve, which presents with foot drop. Patients with unilateral peroneal nerve palsy are frequently encountered in clinical practice. Although bilateral peroneal nerve palsy is rare, bilateral foot drop due to peroneal nerve palsy is much less common. The main complaint is often walking difficulty due to weakened ankle dorsiflexor muscles. Medical history and physical examination are always a part of the diagnosis, and the most useful method is electroneuromyography to evaluate the degree of the lesion. In this report, we present a 52-year-old male unconscious patient with chronic alcoholism admitted with acute bilateral foot drop and discuss clinical assessment, diagnosis, and treatment planning of this rare case of peroneal palsy after lying in the prone position in the light of literature data.