Maintaining Physical Health in Individuals with Duchenne Muscular Dystrophy Through Telerehabilitation.

AIMS: To investigate the effects of a telerehabilitation program on walking performance, lower and upper extremity function, fall frequency, respiratory function, and satisfaction in individuals with Duchenne muscular dystrophy (DMD). METHODS: Thirty children (mean age 8.8 ± 4.2 years) were ambulant (Group 1), and 12 youth (18.5 ± 4.7 years) were non-ambulant (Group 2). The telerehabilitation program was applied by physiotherapists for 24 sessions (3 days/week). The 10-meter walking test, stand up from the supine position test, the modified upper extremity performance test, repetition of Lower and upper extremity movements, and the single breath count (SBC) test were administered. Fall frequency and satisfaction level were also recorded. RESULTS: Significant improvement was found after telerehabilitation in upper extremity performance, repetition of lower and upper extremity movements, fall frequency, and SBC scores in Group 1. Changes in the 10-minute Walk and Stand Up from the Supine Position tests were not significant. There was a significant improvement in SBC scores in Group 2. Satisfaction with the service was 88%. CONCLUSIONS: The 8-week telerehabilitation program was effective in improving aspects of upper and lower extremity function, fall frequency, pulmonary function, and satisfaction levels in individuals with DMD.

Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene. PURPOSE: The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients' response to the treatment. METHODS: The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients' clinical, laboratory, imaging, genetic findings, and chenodeoxycholic acid (CDCA) treatment results were analyzed. RESULTS: The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7-32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment. CONCLUSION: The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.

Evaluation of Sleep Habits and Their Relationship With Quality of Life in Children With Epilepsy.

BACKGROUND: The aim of this study was to investigate sleep habits, quality of life (QoL), and the relationship between them in children with epilepsy. METHODS: In this cross-sectional study, children aged two to 18 years being followed up for epilepsy were assessed using the Children's Sleep Habits Questionnaire (CSHQ) and the Pediatric Quality of Life Inventory (PedsQL). Pearson or Spearman correlation analysis was performed to examine the relationship between normally distributed and non-normally distributed variables, respectively. Linear regression analysis was used to examine independent variables associated with PedsQL total scale score. Level of significance was accepted as P < 0.05. RESULTS: The study included 112 children with a mean age of 10.5 ± 4.4 years (51.8% female). The frequency of poor sleep habits was 96.4%. There was a good level of agreement between children's and parents' PedsQL total, physical health, and psychosocial health scores (P < 0.001). Correlation analysis between QoL and sleep parameters revealed negative correlations between total sleep score and self-assessed PedsQL total scale, physical health, and psychosocial health scores (P < 0.05) and parent-assessed PedsQL total scale and psychosocial health scores (P < 0.05). The results of linear regression analysis indicated that the factors most significantly associated with lower QoL were high CSHQ total sleep score and exclusively daytime seizures (P < 0.001). CONCLUSIONS: It was found that children with epilepsy had poor sleep habits and low QoL and that poor sleep habits have a negative impact on QoL.

Image analyses of artificially damaged carbon/glass/ epoxy composites before and after impact load.

In recent years, there has been a widespread utilization of composite materials, particularly in critical sectors such as aircraft manufacturing, where errors can have significant consequences. This has generated a need for effective protection of composite materials both during and after production. Detecting internal damage in composite materials, which is often visually imperceptible, becomes crucial and can be assessed using non-destructive testing methods. In this study, glass and carbon woven fabric-reinforced epoxy composites intentionally embedded with artificial damages during manufacturing were subjected to impact tests. The composite materials were scanned using the ultrasonic method to detect damages before and after the impacts. Particularly in glass fiber-reinforced composites (GFRP), the damaged area in the artificially damaged glass lamella sample (G/AL) was calculated to be 4-5 times higher than in the undamaged sample (G/UD). Damaged area values in GFRP were calculated as 72.88 mm2 in the G/UD sample, 143.74 mm2 in the G/AC sample, and 315.93 mm2 in the G/AL sample. While the samples with artificial damage in carbon fiber-reinforced composites (C/AL, C/AC) were perforated during the impact tests, the undamaged samples (C/UD) were not. The images obtained were evaluated using image processing algorithms and were employed in damage analysis. In conclusion, the applied method and the developed image processing algorithm yielded successful results in analyzing barely visible damages and detecting damaged areas.

Exploring the complex associations among risks of malnutrition, sarcopenia, and frailty in community-dwelling older adults.

BACKGROUND: Malnutrition, sarcopenia, and frailty are age-related conditions that are associated with multiple health-related negative outcomes. However, the complex associations between them remain to be elucidated. The aims of the study were to explore: (1) whether the risk of sarcopenia has a mediator effect on the association between risks of malnutrition and frailty; and (2) whether physical activity (PA) level modulates this mediator effect in community-dwelling older adults. METHODS: This cross-sectional study involved 593 older adults (62.73% female; mean age = 71.35 ± 5.86 years). The Mini Nutritional Assessment-Short Form (MNA-SF), the SARC-F Questionnaire, and the FRAIL Questionnaire were used to assess the risks of malnutrition, sarcopenia, and frailty, respectively. The International Physical Activity Questionnaire Short Form (IPAQ-SF) was employed to assess PA level. Using the Hayes PROCESS macro (Models 4 and 7), mediation and moderated mediation analyses were performed. RESULTS: The mediation analysis demonstrated that the MNA-SF had a significant effect on the SARC-F (B=-0.325; p < 0.001) and the SARC-F, in turn, had a significant effect on the FRAIL (B = 0.341; p < 0.001). The total (B=-0.171; p < 0.001), direct (B=-0.061; p = 0.001), and indirect (B=-0.111; bootstrap CI did not include zero, which indicates a significant effect) effects of MNA-SF on FRAIL were significant, showing that 65% of the association between the MNA-SF and FRAIL was explained by the SARC-F acting as a mediator. The moderated mediation analysis demonstrated that the association between MNA and SARC-F was moderated by the PA level (B = 0.253; p = 0.016). The SARC-F mediated and relatively enhanced the association between MNA-SF and FRAIL only in older adults with a moderate PA level (B=-0.120; CI: -0.154 to -0.085). CONCLUSIONS: The SARC-F partially mediates the association between the MNA-SF and the FRAIL, indicating that malnutrition affects frailty through an indirect path via sarcopenia. Furthermore, the PA level moderates this mediator effect, with sarcopenia serving as a mediator in older adults with moderate a PA level but not in those with a low PA level. These findings reveal that it may be beneficial to consider PA level in combination with malnutrition and sarcopenia in the management and prevention of frailty in community-dwelling older adults.

Using the center of pressure movement analysis in evaluating spontaneous movements in infants: a comparative study with general movements assessment.

BACKGROUND: Researchers have attempted to automate the spontaneous movement assessment and have sought quantitative and objective methods over the past decade. The purpose of the study was to present a quantitative assessment method of spontaneous movement using center-of-pressure (COP) movement analysis. METHODS: A total of 101 infants were included in the study. The infants were placed in the supine position on the force plate with the cranial-caudal orientation. In this position, the recording of video and COP movement data were made simultaneously for 3 min. Video recordings were used to observe global and detailed general movement assessment (GMA), and COP time series data were used to obtain quantitative movement parameters. RESULTS: According to the global GMA, 13 infants displayed absent fidgety movements (FMs) and 88 infants displayed normal FMs. The binary logistic regression model indicated significant association between global GMA and COP movement parameters (chi-square = 20.817, p < 0.001). The sensitivity, specificity, and overall accuracy of this model were 85% (95% CI: 55-98), 83% (95% CI: 73-90), and 83% (95% CI: 74-90), respectively. The multiple linear regression model showed a significant association between detailed GMA (motor optimality score-revised/MOS-R) and COP movement parameters (F = 10.349, p < 0.001). The MOS-R total score was predicted with a standard error of approximately 1.8 points (6%). CONCLUSIONS: The present study demonstrated the possible avenues for using COP movement analysis to objectively detect the absent FMs and MOS-R total score in clinical settings. Although the method presented in this study requires further validation, it may complement observational GMA and be clinically useful for infant screening purposes, particularly in clinical settings where access to expertise in observational GMA is not available.