Predictors of whole exome sequencing in dystonic cerebral palsy and cerebral palsy-like disorders.

INTRODUCTION: Cerebral palsy (CP) is a group of permanent disorders attributed to non-progressive disturbances that occurred in the developing fetal or infant brain. Cerebral palsy-like (CP-like) disorders may clinically resemble CP but do not fulfill CP criteria and have often a progressive course and/or neurodevelopmental regression. To assess which patients with dystonic CP and dystonic CP-like disorder should undergo Whole Exome Sequencing (WES), we compared the rate of likely causative variants in individuals regarding their clinical picture, co-morbidities, and environmental risk factors. METHOD: Individuals with early onset neurodevelopmental disorder (ND) manifesting with dystonia as a core feature were divided into CP or CP-like cohorts based on their clinical picture and disease course. Detailed clinical picture, co-morbidities, and environmental risk factors including prematurity, asphyxia, SIRS, IRDS, and cerebral bleeding were evaluated. RESULTS: A total of 122 patients were included and divided into the CP group with 70 subjects (30 males; mean age 18y5m±16y6m, mean GMFCS score 3.3 ± 1.4), and the CP-like group with 52 subjects (29 males; mean age 17y7m±1y,6 m, mean GMFCS score 2,6 ± 1,5). The WES-based diagnosis was present in 19 (27.1%) CP patients and 30 CP-like patients (57.7%) with genetic conditions overlap in both groups. We found significant differences in diagnostic rate in CP individuals with vs. without risk factors (13.9% vs. 43.3%); Fisher's exact p = 0.0065. We did not observe the same tendency in CP-like (45.5% vs 58.5%); Fisher's exact p = 0.5. CONCLUSION: WES is a useful diagnostic method for patients with dystonic ND, regardless of their presentation as a CP or CP-like phenotype.

Atypical presentations of DYT1 dystonia with acute craniocervical onset.

DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.

Clinical outcome of cardioembolic stroke treated by intravenous thrombolysis.

INTRODUCTION: Cardioembolic stroke (CS) in patients without thrombolytic treatment is associated with a worse clinical outcome and higher mortality compared to other types of stroke. The aim of this study was to determine the clinical outcome of CS in patients treated by intravenous thrombolysis (IVT). MATERIAL AND METHODOLOGY: Data of patients from the SITS-EAST register (Safe Implementation of Treatments in Stroke) were analyzed in patients who received IVT treatment from 2000 to April 2014. The effect of the stroke etiology according to ICD-10 classification on outcome was analyzed using a univariate and multivariate analysis. The outcomes were assessed as follows: excellent clinical outcome (modified Rankin scale (mRS) 0-1) at 3 months, the rate of symptomatic intracranial hemorrhage (sICH), mortality, and improvement at 24 hours after IVT. RESULTS: Data of 13 772 patients were analyzed. CS represented 30% of all strokes. The mean age of patients with CS, atherothrombotic stroke, lacunar stroke, and other stroke was 70.8, 66.7, 66.2, and 63.3 years, respectively (P < .001). Severity of stroke on admission by median NIHSS score was 13 points in patients with CS, 12 points - in atherothrombotic stroke, 7 points - in lacunar stroke, and 10 points-in other stroke types (P < .001). No difference in mortality was detected among atherothrombotic and CS; however, atherothrombotic strokes had higher odds of sICH [OR = 1.63 (95% CI: 1.07-2.47), P = .023], lower odds of early improvement [OR = 0.79 (95% CI: 0.72-0.86), P < .001], and excellent clinical outcome [OR = 0.77 (95% CI: 0.67-0.87), P < .001] compared with CS. CONCLUSIONS: Cardioembolic strokes are not associated with increased mortality. Patients with CS are less likely to have sICH and have better outcome after IVT.

The associations between fatigue, apathy, and depression in Parkinson's disease.

OBJECTIVES: Fatigue and apathy are two of the most common and most disabling non-motor symptoms of Parkinson's disease (PD). They have a high coincidence and can often be confused; moreover, their relationship is not fully understood. The aim of our study was to describe the coincidence of apathy with different fatigue domains in the presence/absence of depression and to separately describe the associations of different aspects of primary and secondary fatigue with apathy and other clinical and disease-related factors. MATERIALS AND METHODS: A total of 151 non-demented patients with PD were examined using the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), Starkstein Apathy Scale, Multidimensional Fatigue Inventory (MFI), Beck Depression Inventory-II, and Epworth Sleepiness Scale. RESULTS: The prevalence and severity of fatigue and apathy were significantly higher in depressed PD patients. However, our results show that depression, fatigue, and apathy can be clearly distinguished in PD. Apathy was associated with the MFI's-reduced motivation domain in both depressed and non-depressed patients. However, apathy was associated with mental fatigue aspects only in non-depressed patients, and it was not related to the physical aspects of fatigue in any of the studied groups. CONCLUSIONS: Although the pathophysiology of fatigue and apathy in PD is clearly multifactorial, in a proportion of PD patients, these symptoms are associated with depression, dopaminergic depletion in the mesocorticolimbic structures, and disruption of the prefrontal cortex-basal ganglia axis. Therefore, in some PD patients, adequate management of depression and optimal dopaminergic medication may improve both fatigue and apathy.

Serious complication of percutaneous angioplasty with stent implantation in so called "chronic cerebrospinal venous insufficiency" in multiple sclerosis patient.

We report female patient, age 51, with clinically definitive multiple sclerosis (CDMS) since 1998, who underwent two PTA procedures with stent implantation for CCSVI in 2010. Expanded disability status scale (EDSS) worsened since the procedure from 4.5 to 6. Total number of three stents was implanted (two of them in the right internal jugular vein). In six month time, in 2011, patient was referred for independent examination by computer tomography (CT) phlebography for right-sided neck pain. Dislocation of stents on the right side and thrombosis of left sided stent was found. Conservative approach was used so far. Our short report is showing possible complications of PTA and stenting in jugular veins in so called CCSVI and bringing information about neurological state (EDSS) worsening in a subject. Continuation of stent migration in the future is probable, possibly resulting in pulmonary embolism with fatal risk for the patient. We strongly ask for restriction of PTA procedure in so called CCSVI, which concept was not proven to be relevant to MS.

Meningeal carcinomatosis as the first manifestation of malignant carcinomatosis.

Meningeal carcinomatosis (MC) is a malignant infiltration of the leptomeninges and subarachnoid space and can be a devastating complication of a systemic malignancy. Although often found in patients with known metastatic malignancies, MC can also be the initial manifestation of an underlying malignancy. We report four case studies where back pain, dizziness, cognitive decline, headache and headache with the cranial nerve VI palsy were the first signs of MC. In two cases, adenocarcinoma ventriculi was found, in other one, the markers of the gastrointestinal tract malignancy were highly positive but malignity was not found, and in the last one, there was a known breast carcinoma. The diagnosis of MC requires the finding of malignant cells in the cerebrospinal fluid, but sometimes several lumbar punctures are required to establish the diagnosis, and also MRI with gadolinium. Finally, we would like to highlight the fact that markedly decreased glycorrhachia in cerebrospinal fluid (CSF) can also be the first sign of MC (Fig. 6, Tab. 2, Ref. 23).

Mastery, functional disability and perceived health status in patients with multiple sclerosis.

BACKGROUND AND PURPOSE: Multiple sclerosis (MS) is a chronic disease that is difficult to predict and to cope with. Mastery refers to the extent to which patients see themselves as being in control of the forces that affect their lives. It may play an important role in perceived health status and well-being. The purpose of this study was to clarify whether mastery is associated with functional disability and perceived health status in MS patients and how such an association might function. METHODS: Two hundred and three MS patients completed the Short-Form-36 Health Survey as well as the Pearlin-Schooler Mastery Scale. Functional disability was assessed using the Kurtzke Expanded Disability Status Scale. Hierarchical multiple linear regression analyses were performed on the data from two MS age groups: <45 and > or =45 years of age. RESULTS: Functional disability was negatively associated with perceived physical health status in both age groups and with perceived mental health status in younger age group. Mastery was positively associated with perceived health status in older age group. DISCUSSION: The findings confirm that mastery might be helpful for older MS patients. Education strategies for MS patients aimed at personal empowerment for the maintaining of physical and mental well-being may be important.

Impact of fatigue on quality of life in patients with Parkinson's disease.

BACKGROUND AND PURPOSE: Fatigue is frequent and important in the lives of Parkinson's disease (PD) patients. It is multidimensional, with physical and mental aspects. The aim of our study was to explore the impact of fatigue on quality of life (QoL) for PD patients. METHODS: The sample consisted of 175 PD patients from Eastern Slovakia (52% males, mean age 68.2 +/- 9.2, mean disease duration 7.4 +/- 6.7). The Multidimensional Fatigue Inventory (five dimensions), the Parkinson's Disease Quality of Life Questionnaire (eight dimensions) and the Unified Parkinson's Disease Rating Scale were used. Demographic data were obtained in a structured interview. Fisher's exact test, t-test, and multiple linear regression analysis were used. RESULTS: Different aspects of fatigue selectively explained different domains of QoL - physical dimensions of fatigue were connected with Mobility and Activities of daily living; mental fatigue dimensions affected Cognition, Emotional well-being, Communication and Activities of daily living; general fatigue was related to Bodily discomfort. The explained variances varied from 5% (Social support) to 65% (Activities of daily living). CONCLUSION: Fatigue combined with worse functional status appears to be a significant contributor to poor quality of life. Its multidimensional construct can be used to develop strategies for improving specific aspects of fatigue to improve QoL for PD patients.

Blood flow velocity in the middle cerebral artery in heavy alcohol drinkers.

The aim of this study was to assess if heavy alcohol drinking influences blood flow velocity in cerebral arteries. Blood flow velocity (V(mean)) in the middle cerebral artery was measured by transcranial Doppler sonography (TCD) in heavy alcohol drinkers. Significantly decreased V(mean) was found in comparison with healthy volunteers.