Differences in respiratory function, depressive symptoms and quality of life between patients with hereditary motor and sensory neuropathy and myotonic dystrophy undergoing maintenance rehabilitation.

Hereditary motor and sensory neuropathy (HMSN) and myotonic dystrophy (MD) are chronic neuromuscular diseases that cause progressive muscular impairment and impact patient's quality of life. Conflicting findings in existing literature underscore the need for focussed research on specific health aspects in these patients. The aim of the study was to explore the differences in respiratory function, depressive symptoms and quality of life between patients with HMSN and MD undergoing maintenance rehabilitation. Our prospective observational study included 62 HMSN patients (median age 53.5, range 19-79 years; 38 women) and 50 MD patients (median age 54.0, range 18-77 years; 34 women) undergoing maintenance rehabilitation. They performed respiratory function tests (vital capacity, forced vital capacity, forced expiratory volume and peak expiratory flow) and respiratory muscle strength tests (maximum inspiratory pressure, maximum expiratory pressure and sniff nasal inspiratory force). The Center for Epidemiological Studies-Depression Scale was used to evaluate depression, and their health-related quality of life was assessed using the Quality of Life in Genetic Neuromuscular Disease Questionnaire. Using logistic regression, we examined group-difference in presence of depressive symptoms while accounting for age, symptoms duration, and marital status. Multiple linear regression was used to assess the difference in quality-of-life scores, adjusting for age, gender, and symptoms' duration. The HMSN group achieved statistically significantly better results than the MD group on all respiratory measures (about 17% absolute difference in the respiratory function measures and 30% relative difference in the respiratory muscle strength measures on average). Both groups exhibited a high level of depression symptoms (HMSN 24%, MD 44%; estimated adjusted odds-ratio MD vs. HMSN 1.9, 95% CI 0.8-4.5, P  = 0.127). We did not find a statistically significant difference between the groups regarding quality-of-life domains, though a trend towards better quality-of-life among the HMSN patients could be observed. The implication for future practice is that the MD patients would potentially benefit the most from targeted respiratory-rehabilitation interventions, and both groups could benefit from focussed mental-health interventions.

Lower urinary tract function in patients with fracture in thoracolumbal junction: an observational study.

A fracture in the thoracolumbal junction may cause complete or incomplete damage to the spinal cord, conus medullaris or cauda equina and result in an isolated or mixed lesion of the upper and lower motor neurons causing leg weakness and urinary/bowel/sexual dysfunction. In this retrospective cross-sectional study, we aimed to describe electrodiagnostic and urodynamic findings after thoracolumbal fractures and determine potential discriminating factors. We identified 74 cases (mean age 42 years, range 16-79 years, 55 men) admitted to our institution between 2008 and 2018 for Th12, L1 or L2 vertebral fractures, and retrieved from their medical records available demographic, clinical, electrodiagnostic and urodynamic data. The most common electrodiagnostic findings in the lower limbs (n = 40) were moderate-to-severe L3-S1 (35%) and L5-S1 (40%) lesions. As to the external anal sphincter (n = 33), the most frequent findings were an incomplete cauda equina (39%) or conus medullaris (15%) lesion, followed by the combined upper and lower motor neuron lesion (12%). Only the fracture level (with peripheral damage) was statistically significantly associated with electromyography findings. Detrusor overactivity or underactivity was each present in 37 (50%) cases. Those with Th12 versus L1-L2 fractures had higher odds of exhibiting detrusor overactivity; men had higher odds of using clean intermittent catheterization for bladder emptying than women. In summary, detrusor overactivity is common after fractures at the thoracolumbal junction and urodynamic findings are essential for proper diagnosis and selection of therapeutic approach. Combining urodynamic and electrodiagnostic studies is especially valuable in the presence of L1 fracture and lower urinary tract symptoms.

Translation, cross-cultural adaptation and validation of the Slovenian version of Harris Hip Score.

INTRODUCTION: The Harris Hip Score is the most widely used outcome measure for the assessment of hip pathologies. An official Slovenian version has not been culturally adapted and validated. The aim of this study was to create a Slovenian valid and reliable version of the HHS. MATERIALS AND METHOD: The HHS was translated and modified in Slovenian. The measurement properties of the Slovenian HHS were tested in 42 patients suffering from different hip pathologies. Reliability, responsiveness, construct validity, convergent/divergent validity and content validity of the Slovenian version of the HHS were tested. RESULTS: Only minor adaptation was required in the translation process. The internal consistency of the HHS expressed by Cronbach's alpha was 0.94. The test-retest reliability expressed by the intraclass correlation coefficient was 0.983. The correlations of the HHS scale with the WOMAC scale (r = - 0.877) and the VAS scale (r = - 0.717) were statistically significant. The highest correlation between the HHS and SF-36 was with the General Health dimension (r = 0.61). while the lowest correlation was with the SF-36 Mental Health dimension (r = 0.43). MDC95% was 10.1. No floor or ceiling effects were found. CONCLUSION: Slovenian version of HHS seems to has an acceptable level of reliability and validity. Slovenian HHS is short, comprehensible and easy to administer and interpret. TRIAL REGISTRATION: Approved by the Slovenian National Medical Ethics Committee (0120-46/2019/19).

Research on prevalence of secondary conditions in individuals with disabilities: an overview.

Individuals with disabilities may be at increased risk of a number of secondary conditions. Secondary conditions influence health status and quality of life. Many of these conditions are preventable and their consequences can be managed. Knowledge of the prevalence, course, and association with age of secondary conditions is needed for better prevention and management. The aim of present study was to review the available literature on the prevalence of secondary conditions in individuals with disability. We performed searches of electronic databases for studies published between 1980 and 2017 that provided information on the prevalence of secondary conditions in individuals with disabilities. The reference list of all relevant citations was also reviewed for further material. Nineteen papers were included. The findings indicate that (i) studies were mainly population-based descriptive studies, (ii) researchers used different questionnaires, (iii) the most common studied population are patients with spinal cord injury, and (iv) even though secondary conditions are different in different patient populations, the main secondary conditions are pain, spasticity, urinary tract infections, fatigue, depression, and sleep problems. The prevalence of each condition varies widely depending on the studied population and research methodologies across studies. There is still much information that remains to be obtained on the prevalence, definition, and conceptual organization of secondary conditions. There is also a lack of longitudinal studies on the natural course of these conditions.

Bladder dysfunction in presymptomatic gene carriers and patients with Huntington's disease.

The objective of this study was to report bladder dysfunction and cystometric findings in a systematically studied cohort of Huntington's disease (HD) patients. In HD patients and asymptomatic HD gene carriers a urinary function questionnaire, neurologic assessment using the Unified Huntington's Disease Rating Scale, and postvoid residual volume measurement were applied. All patients were also invited to cystometric studies. Urinary function data were compared to control men and women. The most common symptoms in 54 HD patients (24 men) were those of bladder overactivity (men/women 54%/40%), followed by urinary incontinence (29%/43%) and symptoms of disturbed bladder emptying (25%/40%). Using urinary function questionnaires severe bladder dysfunction was found in 4%/0%, moderate in 21%/23%, and mild in 25%/30% of HD men/women. Urinary symptoms interfered with daily life in 21%/37% and sexual life in 21%/33% of sexually active HD men/women. In 5 HD men and 1 woman, increased postvoid residual volume (>100 ml) was found. Compared to 49/55 control men/women urinary incontinence, and urgency were more common in HD men, but not in HD women (urinary incontinence reported 10%/38% of control men/women). Cystometry, performed in 12 HD patients and 1 of 10 asymptomatic HD gene carriers, demonstrated detrusor-sphincter dyssynergia in 5 (42%), detrusor overactivity in 2 (17%), and reduced detrusor capacity in 2 (17%) HD patients. Our study demonstrated significant urinary symptoms in HD patients, which reduced their quality of life. Physicians helping HD patients should also consider this largely neglected aspect of the disease.

Sensitivity and specificity of von Frey's hairs for the diagnosis of peripheral neuropathy in patients with type 2 diabetes mellitus.

OBJECTIVE: The aim was to evaluate von Frey's hairs as a diagnostic tool for peripheral neuropathy in type-2 diabetes patients with symptoms typical for diabetic neuropathy with respect to nerve conduction studies (NCSs) and a combination of clinical examination and NCS. PATIENTS AND METHODS: 65 patients with type-2 diabetes (33 men) with mean age 62.1 (SD 6.5) years, mean diabetes duration 17.5 (SD 9) years and mean symptom duration 5.2 (SD 4.3) years were examined with the set of von Frey's hairs. Diabetic neuropathy was diagnosed trough Neuropathy Disability Score (NDS). NCSs were performed on ulnar, peroneal, tibial and sural nerves. RESULTS: Sensitivity of von Frey's hairs vs. NCS as the gold standard ranged from 37% to 79% and specificity from 65% to 87%. Sensitivity vs. combination of NDS and NCS ranged from 38% to 85% and specificity from 62% to 85%. CONCLUSIONS: Von Frey's hairs have moderate sensitivity and specificity for diagnosis of neurophysiological and also clinical neuropathy. Being a fast and easy-to-perform procedure, they could be appropriate as a screening test in clinical practice.

Effect of transcutaneous electrical nerve stimulation on sensation thresholds in patients with painful diabetic neuropathy: an observational study.

Transcutaneous electrical nerve stimulation (TENS) is one of the therapies for painful neuropathy. Its analgesic mechanisms probably involve the gate control theory, the physiological block and the endogenous pain inhibitory system. The aim of the study was to determine whether TENS improves small fibre function diminished because of painful diabetic neuropathy. Forty-six patients with painful diabetic neuropathy were treated with TENS three consecutive hours a day for 3 weeks. Treatment effect was evaluated with cold, warm, cold pain and heat pain thresholds, vibration perception thresholds and touch perception thresholds. In all patients, thermal-specific and thermal pain sensitivity determination showed quantitative and qualitative abnormalities in all the measured spots. After the TENS therapy, no statistically significant changes in cold, warm, cold pain, heat pain, vibratory perception and touch perception thresholds were observed in the stimulated area. TENS did not alter C, Aδ nor Aß fibre-mediated perception thresholds. The observed changes at thenar are probably because of central mechanisms. In general, analgesic mechanisms of TENS are likely to be complex.