Investigation of the relationship between trunk position sense and balance, functional mobility, fear of falling, and disease stage in Parkinson's disease.

INTRODUCTION: Parameters related to trunk control such as balance disorders, mobility problems, and falling are frequently observed in patients with Parkinson's disease (PD). However, to provide a stable foundation for movement, trunk stability requires appropriate adequate position sense. The aim of the study was to examine the relationship between trunk position sense, balance, functional mobility, fear of falling, and disease stage in patients with PD. METHODS: The study was conducted in 41 patients with PD (16 female and 25 male). Trunk position sense was assessed with a digital inclinometer, balance with functional reach test, Berg balance scale and one-leg stand test, functional mobility with timed up and go test, fear of falling with activity-specific balance confidence scale, and disease stage with Modified Hoehn and Yahr Scale (MHYS). All patients were tested during the "on" phase following drug therapy. RESULTS: Repositioning error degree was related with MHYS, Berg balance scale, right and left one-leg stand test, forward functional reach test, timed up and go test, timed up and go test-cognitive and activity-specific balance confidence scale results in patients with PD (r = - 0.363/ - 0.609, p < 0.05 for all). CONCLUSION: It was shown in the study that trunk position sense was associated with disease stage, balance level, functional mobility, and fear of falling in patients with PD. These results suggest that trunk position sense is more important to plan effective rehabilitation program for development and protection of disease stage, balance level, functional mobility, and fear of falling in patients with PD.

Huntington's disease in Turkey: genetic counseling, clinical features, and outcome.

Objective: This study aims to report the data of genetic counseling and to identify the clinical features of Turkish Huntington's disease (HD) patients and to investigate its possible relationship with genetic data.Method: A regular weekly outpatient clinic has been held routinely since January 2018. Patients and their referred relatives have been evaluated regarding clinical features and genetic counseling. The database of our collaborative team was used for the study.Results: Total 141 individuals have been evaluated. Among 84 subjects genetic counseling was given, diagnosis of HD was confirmed genetically in 34 (42.0%) of individuals (25 were symptomatic-HD, 9 were presymptomatic-HD). Fifty-seven patients were previously diagnosed with HD. The mean age of onset was 42.4 (11.9) years. Chorea was mostly reported initial symptom. The mean CAG repeat number of the expanded allele was 44.1 (5.1) and correlated inversely with the age of onset (p < 0.001). During a 4.8 (3.1) year follow-up, 10% of the patients were deceased. At the last visit, over half of patients had all of the movement, behavioral and cognitive problems, and 41.6% of them had required 24-hr supervision appropriate (UHDRS-independence score 64.6 (24.4)). Paternal inheritance was related to higher CAG repeats, younger age of disease onset, and higher UHDRS-motor scores.Conclusion: HD in Turkey is a severe disabling disease affecting a younger adult population. Over half of patients had all of the movement, behavioral and cognitive problems. Genetic counseling gives the opportunity to diagnose subjects at the pre-symptomatic phase. A collaborative approach is rational in the management of HD.

Sonographic assessment of carpal tunnel syndrome in rheumatoid arthritis: prevalence and correlation with disease activity.

Carpal tunnel syndrome (CTS) is one of the most frequent extra-articular manifestations of rheumatoid arthritis (RA). High frequency ultrasonography (US) is a sensitive and specific method in diagnosis of CTS. This study is aimed to: firstly assess diameter frequency of CTS in RA with US and compare with a control group; secondly, investigate relationship of CTS with disease activity. One hundred consecutive RA patients (women/men: 78/22) fulfilling ACR 1987 RA criteria and 45 healthy controls (women/control: 34/11) were enrolled into study. Disease activity parameters, RA and CTS patient global assessment and health assessment questionnaire (HAQ-DI) were recorded. Both patient and control group were questioned about secondary causes of CTS, and Katz hand diagram, Boston CTS questionnaire and Phalen ve Tinel tests were applied once for each hand. Wrist joint and carpal tunnel were assessed with US grey scale and power Doppler US, then cross-sectional area of median nerve (CSA) was calculated. Patients with median nerve CSA between 10.0 and 13.0 mm(2) were evaluated with electromyography (EMG). CTS was diagnosed if CSA of median nerve >13.0 mm(2) or CTS was shown with NCS. Although there was no difference between RA patients and controls in age, sex, history of DM (+) and goitre, CTS was more frequent in RA group (respectively, 17.0% vs. 4.4%, P = 0.038). In RA group with CTS, age, history of DM, disease duration, HAQ-DI score, CTS patient global score, Boston symptom severity and functional status scores were elevated compared to without CTS [respectively, 57 (36-73) vs. 50 (24-76), P = 0.041; 35.3% vs. 6.0%, P < 0.001; 108 (12-396) months vs. 72 (6-360) months, P = 0.036; 1.93 (0.75-2.87) vs. 1.125 (0-2.75), P = 0.013; 52 (1-97) vs. 25 (0-91), P = 0.001; 2.81 (1.18-4.17) vs. 2.0 (1.0-4.01), P = 0.01; 3.37 (1.37-5.0) vs. 2.25 (1.0-5.0), P = 0.008]. No difference was found between CTS (+) and (-) RA patients in acute phase reactants, disease activity and US findings (P > 0.05). Sensitivity of Katz hand diagram was higher than Tinel and Phalen tests (respectively, 100, 60.0, 66.7%). Boston symptom and functional scores of RA patients with CTS diagnosed by EMG were increased than patients CTS (-) by EMG [respectively, 3.05 (1.90-4.27) vs. 1.55 (1.0-2.90), P = 0.002; 3.25 (1.73-3.82) vs. 1.12 (1.0-2.10), P = 0.008]. CTS frequency in RA was found higher than normal population, especially in patients with additional risk factors of CTS. There was no relationship between CTS and disease activity. CTS group had long disease duration and worse functional status. CTS could be a result of the chronic course in RA. In patient with CSA between 10 and 13 mm(2), Boston CTS questionnaire might give additional idea about CTS.

Severity of Carpal tunnel syndrome assessed with high frequency ultrasonography.

Although nerve conduction study (NCS) is the method most frequently used in daily clinical practice to confirm clinical diagnosis of Carpal tunnel syndrome (CTS), ultrasonographic (US) measurement of the median nerve cross-sectional area is both sensitive and specific for the diagnosis of CTS. Moreover, an algorithm evaluating CTS severity based on CSA of median nerve was suggested. This study is aimed to investigate the clinical usefulness of this algorithm in assessing CTS severity. The patients underwent a full clinical examination, including Tinel and Phalen test, and questioned about symptoms and the secondary causes of CTS. All of the patients refilled a Turkish version Levine Boston Carpal tunnel syndrome questionnaire (BQ) and the visual analog scale for pain (VAS 0-100 mm) A MyLab 70 US system (Esaote Biomedica, Genoa, Italy) equipped with a broadband 6-18 MHz linear transducer was used for US examination. The cross-sectional area of the median nerve was measured at the proximal inlet of the carpal tunnel (US cut-off points that discriminate between different grades of CTS severity as 10.0-13.0 mm(2) for mild symptoms, 13.0-15.0 mm(2) moderate symptoms and >15.0 mm(2) for severe patients). Nerve conduction studies were carried out, and severity of electrophysiological CTS impairment was reported as normal, mild, moderate, severe and extreme. The agreement between NCS and US in showing CTS severity (normal, mild, moderate and severe) was calculated with Cohen's kappa coefficient. Ninety-nine wrists of 54 patients (male/female: 4/50) were included in the study. Mean ages of patients were (+/-SD) 43.3 +/- 11 years. Forty-nine patients had idiopathic CTS, whereas five had secondary CTS (4 had diabetes mellitus and 1 had hypothyroidism). Symptoms were bilateral in 45 patients (83.3%). There were statistical differences between the groups according to electrophysiologic severity scale in terms of age (P < 0.001), body-mass index (P = 0.034), VAS (P = 0.014), Boston symptom severity (P = 0.013) and CSA of median nerve (P < 0.001). The identification of CTS severity showed substantial agreement (Cohen's kappa coefficient = 0.619) between the US and NCS. Also the four groups based on US CTS severity classification were significantly different in VAS (P = 0.017) and Boston symptom severity (P = 0.021). The median nerve swelling detected by calculation of the CSA reflects in itself the degree of nerve damage as expressed by the clinical picture. In addition to CTS diagnosis, sonographic measurement of CSA could also give additional information about severity of median nerve involvement. Using of US may cost-effectively reduce the number of NCS in patients with suspected CTS.

Differences in improvement between patients with idiopathic versus neurovascular hemifacial spasm after botulinum toxin treatment.

This study was performed to investigate the differences in response to botulinum toxin treatment between patients with idiopathic versus neurovascular hemifacial spasm. A total of 69 patients with hemifacial spasm were investigated prospectively with cranial magnetic resonance imaging and magnetic resonance angiography. Neurovascular contact was found in 23 patients. All patients were assessed with a severity scale and a disease awareness scale. After treatment, the patients with idiopathic hemifacial spasm improved significantly in terms of both severity and awareness scores, but the patients with neurovascular hemifacial spasm improved only in the awareness scores. In conclusion, patients with idiopathic hemifacial spasm experienced a greater improvement after treatment with botulinum toxin than did patients with neurovascular hemifacial spasm.

Predisposing factors of restless legs syndrome in pregnancy.

The occurrence of restless legs syndrome in pregnancy is well known. However, the mechanism of this association is unclear. In this study, we aimed to identify the factors that predispose women to have restless legs syndrome during pregnancy. A total of 146 pregnant women were included in the study. Patients were asked questions regarding demographic characteristics, complications of pregnancy, medical therapy (vitamin and iron intake), sleep disorders, muscle cramps, and excessive daytime sleepiness. Electroneurography, routine blood biochemistry tests, complete blood count, and thyroid function tests were performed and vitamin B12, folic acid, serum iron, iron-binding capacity, ferritin, iron saturation, prolactin, estradiol, and progesterone were measured. Of the participants, 38 were diagnosed as having restless legs syndrome. In women with restless legs syndrome, additional medical problems, night cramps, and excessive daytime sleepiness were more frequent. In women without restless legs syndrome, serum hemoglobin levels were significantly higher and the use of supplemental iron or vitamins was greater. Among the women with restless legs syndrome, progesterone levels were slightly higher but this difference was not statistically significant. In summary, in this study, lower hemoglobin levels and supplementation deficits of iron and vitamins were found be the risk factors for restless legs syndrome in pregnancy.