The challenges faced by patients with hereditary myopathy during the COVID-19 pandemic.

BACKGROUND: Neuromuscular diseases are inherited and the prevalance of neuromuscular disease is estimated to be around 1:2000. METHODS: This cross-sectional research was conducted with a qualitative research model. Data were collected from patients with an online survey using the snowball sampling method. The study was conducted in accordance with the STROBE checklist methodology. Frequencies and percentages were used to analyse demographic data, and content analysis was used for qualitative opinions. RESULTS: Most of the participants were men and their education levels were low. Participants reported experiencing physical and socio-economic barriers to accessing healthcare. Participants also stated that these barriers have worsened since COVID-19. CONCLUSIONS: Patients with hereditary myopathy are stigmatised by society and face different problems depending on the type of disease and level of function. It is recommended that decision-makers enable patients with hereditary myopathy in exceptional situations to access healthcare services and take steps to resolve their problems.

Development of the self-efficacy scale in caregivers of Duchenne muscular dystrophy patients.

BACKGROUND: It is important to measure the self-efficacy knowledge of the caregiver of Duchenne muscular dystrophy (DMD) patients in order to overcome the problems that arise and carry out the care process in a healthy manner. OBJECTIVE: This research was carried out to develop a self-efficacy scale in caregivers of individuals with DMD. METHODS: The study was conducted with 99 volunteer DMD caregivers to evaluate the psychometric properties of the developed scale. Exploratory Factor Analysis (EFA) was performed with the SPSS 25 Package Program to determine the factors of the scale. Confirmatory Factor Analysis (CFA) analysis was performed with AMOS 23 to confirm the factors obtained by EFA. Cronbach's alpha coefficient was used for the internal consistency of the DMD-CSES. RESULTS: A valid and reliable scale was obtained to measure the self-efficacy of caregivers of DMD patients. CONCLUSION: Although some scales have been developed to evaluate the care burden of family members who care for patient-centered symptoms and functional changes in patients with DMD, there is no single scale that adequately describes the conditions and resources of caregivers on a global scale. The search for a definitive scale is expected to continue until a definitive treatment for the disease is found. Developing a valid and reliable scale to identify the self-efficacy, knowledge, skills and resources of caregivers with a common perspective of physicians and health management team centred on patients with DMD will be effective in practice.

Comparison of physical activity, fatigue, and dynamic balance levels of health workers according to their working positions.

BACKGROUND: Many studies have evaluated physical activity and fatigue. However, a causal relationship between physical activity, fatigue and balance in healthcare workers has not been established. OBJECTIVE: To evaluate the activity levels, fatigue, and dynamic balance of health workers who work actively or in a desk job in many different units in the hospital. METHODS: 72 Health workers from two different groups participated in the study, 37 were active workers (AW), and 35 were desk workers (DW) at the Diyarbakir Gazi Yasargil Training and Research Hospital. Participants were given a Sociodemographic Information Form, an International Physical Activity Questionnaire (IPAQ), and a 30-s Chair Stand Test (30-s CST) with a Modified Borg Scale (MBS) before starting work in the morning and at the end of work. RESULTS: 69.4% of the study participants were female, and 54.2% were between 20 and 30 years old. It was found that the values of moderate physical activity, walking, and total physical activity were significantly higher in active workers than desk workers (p = 0.000). There was no statistically significant difference between the means of work start and after work fatigue of both groups (p > 0.05). A statistically significant difference was found when the starting and finishing work values of the dynamic balance tests of the groups were compared (p = 0.006). CONCLUSION: It was found that the level of physical activity and dynamic balance of individuals working at desk jobs was significantly lower than that of the active group.

Vaccine hesitancy in patients with COVID-19 who have back pain.

OBJECTIVES: Musculoskeletal pain is among the most common symptoms in patients diagnosed with coronavirus disease 2019 (COVID-19), and it has placed a significant burden on health worldwide during the pandemic. This study explored vaccine hesitancy and associated factors in patients with positive COVID-19 polymerase chain reaction test results who were hospitalized and had back pain. METHODS: A cross-sectional study was conducted among 170 hospitalized COVID-19 patients over 18 years of age. Data were analyzed using descriptive statistics with IBM SPSS ver. 25.0. RESULTS: COVID-19 patients who were married considered COVID-19 vaccinations riskier than unmarried COVID-19 patients. Patients who had not been vaccinated expressed higher levels of distrust towards COVID-19 vaccines than patients who had been vaccinated. Participants had relatively little hesitation toward the Sinovac vaccine. High vaccine confidence was found in all participants regardless of vaccination status. Those who had not received the COVID-19 vaccine reported higher risk perceptions than those who had received at least 1 dose of any COVID-19 vaccine. CONCLUSION: Measurements of the hesitancy of vaccinated and non-vaccinated patients or members of society towards vaccines can be an important parameter for health authorities to find solutions.

Evaluation of Index of Cardiac Electrophysiological Balance in Patients With Myotonic Dystrophy Type 1.

BACKGROUND: Myotonic dystrophy type 1(MD1), which is characterized by decreased muscle tone, progressive muscle weakness, and cardiac involvement, is an autosomal dominant and progressive congenital muscle disease. Cardiac involvement more often manifests as conduction abnormalities and arrhythmias (such as supraventricular or ventricular). Approximately one-third of MD1-related deaths occur due to cardiac causes. The index of cardiac-electrophysiological balance (ICEB) is a current parameter calculated as QT interval/QRS duration. The increase in this parameter has been associated with malignant ventricular arrhythmias. In this study, our aim was to compare the ICEB values ​​of MD1 patients and the normal population. MATERIAL AND METHOD: A total of 62 patients were included in our study. They were divided into two groups - 32 MD patients and 30 controls. The demographic, clinical, laboratory, and electrocardiographic parameters of the two groups were compared. RESULTS: The median age of the study population was 24 (20-36 IQR), and 36 (58%) of these patients were female. Body mass index was higher in the control group (p = 0.037). While in the MD1 group creatinine kinase was significantly higher (p <0.001), In the control group creatinine, aspartate aminotransferase, alanine aminotransferase, calcium, and lymphocyte levels were significantly higher (p=0.031, p= 0.003, p=0.001, p=0.002, p=0.031, respectively). ICEB [3.96 (3.65-4.46) vs 3.74 (3.49-3.85) p=0.015] and corrected ICEB (ICEBc) [4.48 (4.08-4.92) vs 4.20 (4.03-4.51) p = 0.048] were significantly higher in the MD1 group. CONCLUSION: In our study, ICEB was found to be higher in MD1 patients than in the control group. Increased ICEB and ICEBc values ​​in MD1 patients may precipitate ventricular arrhythmias in the future. Close monitoring of these parameters can be helpful in predicting possible ventricular arrhythmias and in risk stratification.

Validity and reliability of the Pandemic Fatigue Scale (PFS) in the Turkish population.

BACKGROUND: The measures developed to fight the COVID-19 pandemic caused fear, stress and anxiety in people over time. It was reported that pandemic fatigue, associated with the gradual loss of motivation to follow the implemented protective measures, emerged in societies. OBJECTIVE: This cross-sectional-methodological study aimed to validate the Turkish version of the Pandemic Fatigue Scale, developed by Lilleholt et al. (2020). METHODS: A web-based questionnaire was conducted to examine the validity and reliability of the Turkish version of the PFS. 1149 participants from all regions in Turkey participated. Exploratory Factor Analysis (EFA) and Confirmatory Factor Analysis (CFA) were performed. RESULTS: As a result of the KMO and Bartlett's Test of Sphericity, the scale was suitable for the factor analysis. According to EFA, the scale has two sub-factors. The first sub-factor explained 48.7%, and the second sub-factor explained 16.7% of the total variance. Factor loadings of items varied between 0.67 and 0.89. CFA shows that acceptable fit values were obtained for the RMSEA, GFI, AGFI, CFI, NFI and IFI fit indices. CONCLUSIONS: The results support that PFS is a valid and reliable screening tool that can be used to measure the phenomenon of pandemic fatigue.

Evaluation of cardiomyopathy with two-dimensional speckle tracking echocardiography in limb-girdle muscular dystrophy type 2A and 2B.

PURPOSE: Cardiac involvement in limb-girdle muscular dystrophy (LGMD)2A and LGMD2B, the most common subgroups of LGMD, is controversial. Our study aims to determine whether myocardial dysfunction develops in LGMD2A and LGMD2B patients. METHODS: The study included 16 LGMD2A, 12 LGMD2B patients, and 48 healthy individuals. Comparisons included demographic, clinical, and laboratory parameters of LGMD2A and LGMD2B subgroups and traditional echocardiography and two-dimensional speckle tracking echocardiography (2D-STE) parameters with the normal population. RESULTS: The median age was 33 (22-39 interquartile range [IQR]) in the LGMD2A group, 33 (27-38 IQR) in the LGMD2B group, and 28 (25-35 IQR) in the control group. The left ventricular (LV) ejection fraction of both LGMD2A and LGMD2B groups was similar to the control group (p = 0.296 and p = 0.918). Apical 4-chamber longitudinal strain (LS), Apical 2-chamber LS, Apical 3-chamber LS, left ventricular global longitudinal strain (LVGLS)-mid-myocardial, LVGLS-endocardium, and LVGLS-epicardium were lower (less negative) in the LGMD2B group compared to the control group (p = 0.006, p = 0.001, p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively). CONCLUSION: LV 2D-STE parameters of LGMD2A patients were similar to the control group, while they decreased significantly (less negative) in LGMD2B patients, indicating that LV subclinical myocardial dysfunction may develop in LGMD2B patients.

Evaluation of Myocardial Strain by 2-Dimensional Speckle Tracking Echocardiography in Patients with Facioscapulohumeral Muscular Dystrophy.

BACKGROUND: Facioscapulohumeral muscular dystrophy is one of the most common congenital muscle disorders. Whether facioscapulohumeral muscular dystrophy causes cardiac involvement is still controversial. Although electrocardiography and conventional echocardiography studies have been performed, there is no data on strain echocardiography in facioscapulohumeral muscular dystrophy. Our study aims to compare the myocardial strain parameters by 2-dimensional speckle tracking echocardiography in patients with facioscapulohumeral muscular dystrophy and the normal group. METHODS: This prospective single-center study included 35 patients with facioscapulohumeral muscular dystrophy and 54 control patients. Demographic, clinical, and laboratory parameters of both groups were compared. In addition to conventional echocardiography images, myocardial strain parameters were performed using 2-dimensional speckle tracking echocardiography. RESULTS: The median age of the study population was 25 (19-35 IQR) and 51 (57.3%) of them were male. Left ventricle-global circumferential strain was significantly lower in the facioscapulohumeral muscular dystrophy group than in the normal group [−20.3 (−22.0; −19.0) vs. −21.6 (−22.5; −20.0), P = .020]. Two-dimensional speckle tracking echocardiography findings except left ventricle-global circumferential strain [for left ventricle-global longitudinal strain P = .259, for left ventricle-global radial strain P = .338, for right ventricle-global circumferential strain P=.250, and for right ventricle-free wall longitudinal strain P = .288] were similar in both groups. CONCLUSIONS: As a result of our study, there was no significant difference between 2-dimensional speckle tracking echocardiography parameters other than the left ventricle-global circumferential strain between facioscapulohumeral muscular dystrophy and normal groups.

The effects of home exercise program on limb-girdle disease: a cohort study.

This study aims to demonstrate the effectiveness of rehabilitation in patients with limb-girdle disease, who were given a home exercise program and called for follow-up in certain periods by observing the functional areas of the shoulder and pelvic groups every six months. Suitable statistical methods were conducted. Descriptive findings and continuous variables regarding the patients were presented. As a result of the analyses, no statistically significant difference was found only in pre-treatment and post-treatment wrist strength and trunk extension variables, but a statistically significant difference was found between the pre-treatment and post-treatment scores of all other types of strength. Significant differences were found between the pre-treatment and post-treatment cervical flexion strength in terms of general weakness and inability to walk, joint limitation and walking status. It is believed that the rehabilitation method to be applied to patients with limb-girdle muscular dystrophy (LGMD) detected in the early period will provide effective results and may form the basis for referring them to physicians and health professionals. It has been concluded that rehabilitation will help them lead a comfortable life.

Myocardial Strain Assessment by 2D Speckle-Tracking Echocardiography in Patients with Congenital Myopathy.

Background: Congenital myopathies (CMs) are a group of rare genetic muscle disorders. Cardiac involvement can be seen in these patients. We aimed to evaluate the myocardial strain parameters by 2D speckle-tracking echocardiography (STE) in patients with CM. Materials and Methods: Twenty-four patients with CM whose diagnosis was confirmed by genetic analysis or muscle biopsy were included in the study, and 48 patients were involved as a control group. Left ventricular ejection fraction (LVEF%) was calculated by biplane Simpson method, and myocardial strain analysis was performed by 2D STE. Results: The median age of the study population was 26 (19-35 interquartile range [IQR]) and 43 (60%) were women. In the analysis performed after the exclusion of two patients with multiminicore disease (MMD) who developed heart failure, although mild, LVEF% (62 [60-65 IQR] vs. 64 [63-66 IQR], P = 0.008) and right ventricular global longitudinal strain (RVGLS) were significantly lower in the CM group (-21.8 [-19.7, -24.9 IQR] vs. -23.9 [-22.4, -25.6 IQR], P = 0.0017). Left ventricular global longitudinal strain (LVGLS) was observed similarly in both groups (-19.9 [-18.7, -20.7 IQR] vs. -20.5 [-19.3, -21.9 IQR], P = 0.069). LVEF% (33 and 46), LVGLS (-7.5 and -10.7), and RVGLS (-14.9 and -16.1) values were low in two siblings with MMD. Conclusion: Although LVEF% and RVGLS were significantly lower in the CM group, LVGLS was similar. The decrease in RVGLS and LVEF% was mild, and heart failure was not observed in any patient except MMD patients who were not included in the analysis.