BACKGROUND AND PURPOSE: In a previous report, a strong gene-environment interaction between human herpesvirus 6A (HHV6A) active replication and MHC2TA rs4774C was demonstrated. The objectives of this study were: (i) to reappraise the association that was found in the previous study; (ii) to evaluate if MS patients with minor allele ...

MRI findings of primary anti-phospholipid antibody syndrome (PAPLS) are difficult to distinguish from those of multiple sclerosis (MS). Only a few previous studies have compared conventional and non-conventional MRI findings in MS and PAPLS patients. In addition, MRI differences between anti-phospholipid antibody (APLA) positive (+) and APLA negative (-) MS ...

We identified a unique antibody gene mutation pattern (i.e. "signature") in cerebrospinal fluid (CSF) B cells from multiple sclerosis (MS) patients not present in control populations. Prevalence of the signature in CSF B cells of patients at risk to develop MS predicted conversion to MS with 91% accuracy in a ...

PURPOSE: To evaluate the presence of metabolic syndrome (MS) in children and adolescents treated with valproate (VPA). METHODS: One hundred fourteen patients (54 male and 60 female) were studied. These patients were followed from the beginning of therapy for at least 24 months; at the end of follow-up, 46 patients ...

Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease resulting in a wide array of clinical manifestations, primarily affecting the skin and central nervous system. Mucocutaneous features play a very important role in the recognition of this syndrome. To review the prevalence and patterns of cutaneous manifestations in tuberous ...

Chronic cerebrospinal venous insufficiency (CCSVI) is a vascular picture that shows a strong association with multiple sclerosis (MS). The aim of this study was to investigate the relationship between a Doppler cerebral venous hemodynamic insufficiency severity score (VHISS) and cerebrospinal fluid (CSF) flow dynamics in 16 patients presenting with CCSVI ...

Multiple endocrine neoplasia type 1 (MEN 1) is a complex multi-system disease manifesting a diverse range of primary and secondary metabolic and neoplastic disorders. It is possible to improve patient prognosis by early disease detection and treatment. Regular biochemical and radiological screening for parathyroid, gastro-enteropancreatic, pituitary, intrathorasic and adrenal lesions ...

BACKGROUND: The 15-deoxi delta prostaglandin J(2) (15d-PGJ(2)) is a peroxisome proliferator-activated receptor-gamma agonist with potent anti-inflammatory properties. It has been suggested that 15d-PGJ(2) may modulate multiple sclerosis (MS). METHODS: Here, we investigated the plasma levels of 15d-PGJ(2) by enzyme-linked immunoassay in 28 healthy controls and 140 MS patients [30 patients ...

Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrimination ...

OBJECTIVES: Multiple sclerosis (MS) is hypothesized to be caused by an infectious agent that initiates an autoimmune reaction. Among the infectious agents linked to MS is human herpesvirus 6 (HHV-6). Due to the high occurrence of MS among Jordanian population and the deficiency of MS studies in Jordan, the prevalence ...

INTRODUCTION: Not uncommonly, differentiating multiple sclerosis (MS) from ischemic cerebral vascular disease is difficult based on conventional magnetic resonance imaging (MRI). We aim to determine whether preferential occult injury in the normal-appearing corpus callosum (NACC) is more severe in patients with MS than symptomatic carotid occlusion by comparing fractional anisotropy ...

BACKGROUND: Although cases of Brugada-type electrocardiographic (ECG) pattern in peripheral (limb) leads have been reported ("atypical" Brugada syndrome [BS]), their incidence in patients investigated for BS is unknown. METHODS: We retrospectively analyzed an ECG database collected during ajmaline test in 143 patients (89 men) with suspected BS. In 42 patients, ...

INTRODUCTION: We identified a subgroup of 20 patients with multiple sclerosis (MS) and psoriasis within a total group of 692 patients with MS. RESULTS: There was a high (80%) incidence of brainstem and/or cerebellar involvement and a high mean (+/-SD) Multiple Sclerosis Severity Score (6.06 +/- 2.88) in this subgroup. ...

Approximately 85% of multiple sclerosis (MS) cases begin as clinically isolated syndromes (CIS). Results from the Controlled High-Risk Subjects Avonex((R)) Multiple Sclerosis Prevention Study (CHAMPS) demonstrated that, in patients with CIS, treatment with intramuscular (IM) interferon beta-1a (IFNbeta-1a) 30 mug once weekly delayed conversion to clinically definite MS (CDMS) in ...

Previous studies report the benefit of UVA1 phototherapy in treating acrosclerosis in patients with systemic sclerosis. We carried out a retrospective study to examine the effectiveness of UVA1 phototherapy in scleroderma affecting acral and proximal sites in patients with this disease. Patients with systemic sclerosis (diffuse type, n=5; limited type, ...

We evaluated the role of sterol-regulatory element binding protein (SREBP)-1c/peroxisome proliferator activated receptor-gamma (PPARgamma) pathway on heart lipotoxicity in patients with metabolic syndrome (MS) and aortic stenosis (AS). Echocardiographic parameters of heart function and structural alterations of LV specimens were studied in patients with (n = 56) and without (n ...

BACKGROUND AND PURPOSE: As potential therapies aimed at halting or slowing the decline in upper motor neuron function in patients with amyotrophic lateral sclerosis (ALS) or primary lateral sclerosis (PLS) are developed, a quantitative method for monitoring response will be necessary. Measurement of fractional anisotropy (FA) using diffusion tensor imaging ...

BACKGROUND: Motor cortex stimulation has been proposed for treatment of amyotrophic lateral sclerosis (ALS) and preliminary studies have reported a slight reduction of disease progression using both invasive and noninvasive repetitive stimulation of the motor cortex. OBJECTIVE: The aim of this proof of principle study was to investigate the effects ...

BACKGROUND: Neutralizing antibodies (NABs) against interferon beta (IFNbeta) are associated with a loss of IFNbeta bioactivity and clinical effectiveness. To date, there are no anti-NAB strategies available. The primary objective of this trial was to investigate whether intravenous IFNbeta-1b can restore bioactivity in NAB-positive patients with MS. METHODS: NAB-positive patients ...

There has been no data on oligoclonal IgG bands (OCBs) for Turkish MS population, who is believed to be placed between Western and Eastern world regarding the clinical and immunological features. In the present study, we examined the correlation between the frequency of OCB and clinical and demographical features of ...

OBJECTIVES: To measure sweating in patients with multiple sclerosis (MS). MATERIALS AND METHODS: Sweating was measured by an evaporimeter after a heating stimulus in 29 MS patients and in 15 healthy control subjects. RESULTS: The MS patients sweated markedly less than the controls. After 10 min of heating the sweating ...

We had reported that immune cells from relapsing remitting multiple sclerosis (RR-MS) patients secrete low levels of BDNF and that there is a defective regulation of its secretion via DC40. We now studied the effect of interferon-beta (IFN-beta1) on the secretion and regulation of BDNF from immune cells in patients ...

The pathological substrate of progressive disability in multiple sclerosis is hypothesized to be axonal loss. Differences in the demographic, pathological and radiological features of patients with primary progressive compared with secondary progressive multiple sclerosis raise the question as to whether they actually represent separate clinical entities. So far, large pathological ...

Deficits in multiple sclerosis (MS) patients' performance on the Stroop Test have been attributed to problems with processing speed and selective attention. Data for 248 MS patients and 178 controls on all three trials of the Stroop were combined using various scoring formulas proposed for assessing processing speed, color difficulty, ...

Left ventricular activation delay (LVAT) >100 ms may determine response to cardiac resynchronization therapy, but its prevalence and relation to QRS configuration are unknown. QRS duration and LVAT in control subjects (n = 30) were compared with those in patients with heart failure (HF; LV ejection fraction 23 +/- 8%, ...

BACKGROUND: Vitamin D is important for bone health and immune regulation, and has been shown to be low in multiple sclerosis (MS). We sought to determine the effect of over the counter low dose cholecalciferol (LDC) and high dose ergocalciferol (HDE) on the vitamin D levels in MS patients. METHODS: ...

The aim of our study was to explore restless legs syndrome (RLS) frequency in multiple sclerosis (MS)-patients and establish whether RLS could be a symptom of MS. Over a period of 1 year, we consecutively enrolled 202 MS-patients and 212 healthy controls, matched for sex and age, in a case-control ...

OBJECTIVE: Axonal degeneration is the likely cause of disease progression in multiple sclerosis (MS). Our previous results indicated that neuron-specific N-acetylaspartate (NAA) is a candidate CSF biomarker for disease progression in MS. The aim of this study was to explore the potential of NAA as an early biomarker of axonal ...

BACKGROUND: In primary progressive multiple sclerosis (PPMS), a discrepancy exists between the modest brain white matter (WM) lesion burden and the severity of neurologic disability. Double-inversion recovery (DIR) sequences have improved MRI sensitivity in the detection of cortical lesions (CLs) in patients with relapsing-onset MS. OBJECTIVE: This 2-year longitudinal study ...

Although digital ulceration frequently occurs in patients with systemic sclerosis, there have been few reports on macrovascular involvement. Macrovascular disease in systemic sclerosis has recently been described. We retrospectively reviewed the medical records and brachial angiographic findings of 19 systemic sclerosis patients, who exhibited Raynaud's phenomenon and digital ulceration. We ...

BACKGROUND: Many studies have suggested that periodontal disease is related to metabolic disorders. Few studies have investigated metabolic syndrome (MS), as defined by the International Diabetes Federation in 2005, in the Chinese population. The aim of this study was to assess the association of periodontitis with MS. METHODS: In this ...

OBJECTIVES: We explored the possible effects of neuromuscular electrostimulation on the swallowing function of patients with multiple sclerosis and swallowing problems. METHODS: Twenty-five patients (average age, 53.1 years; SD, 9.8 years) with multiple sclerosis and swallowing problems were treated for 3 weeks with 2 sessions per week of neuromuscular electrostimulation. ...

Multiple sclerosis (MS) patients are at higher risk for epilepsy. Epilepsy was frequent among our MS patients (6.55%). Progressive MS forms were associated with higher incidence of epilepsy (p=0.021). Partial motor seizures were observed in five patients (62.5%) and generalized tonic-clonic in three (37.5%). Electroencephalogram (EEG) revealed epileptic activity in ...

OBJECTIVE: Liquid chromatography-tandem mass spectrometry (LC-MS/MS) eliminates cross-reactivity, which is a major limitation of immunoassays used for the measurement of salivary cortisol (SalC). We aimed to evaluate the potential of SalC measured by LC-MS/MS in patients undergoing assessment of the HPA axis. DESIGN AND PATIENTS: Cross-sectional study of 78 patients ...

BACKGROUND: To establish whether or not multiple sclerosis (MS) and neuromyelitis optica (NMO) are different pathological entities, we wondered whether MS patients and NMO patients share the same pattern of human leukocyte antigen (HLA) predisposition. OBJECTIVE: To study a putative association between susceptibility to NMO and HLA class I or ...

OBJECTIVE: We previously showed that serum IgG repertoires distinguished multiple sclerosis (MS) patients from healthy subjects and from patients with other inflammatory neurological diseases (OIND). We questioned whether the serum IgG repertoire of patients presenting a clinically isolated syndrome (CIS) could predict MS. METHODS: The global IgG immune responses against ...

To assess changes in electrical impedance myography (EIM) parameters in amyotrophic lateral sclerosis (ALS). Ten patients with ALS and a cohort of normal subjects underwent EIM testing of tibialis anterior. Montages using voltage and current electrodes placed at a distance (far) and in close proximity (near) were compared. The EIM ...

INTRODUCTION: Previous studies of natalizumab (Tysabri) in relapsing multiple sclerosis (MS) patients have included patients with moderate disease activity. We studied a patient population with high disease activity. PATIENTS AND METHODS: We analyzed data from 234 consecutive, natalizumab-treated patients, followed for at least 3 months. Three groups of patients were ...

AIM: The aim of our study was to evaluate the effectiveness of inpatient multidisciplinary rehabilitation treatment in multiple sclerosis (MS) and identify reliable prognostic factors. METHODS: Two hundred patients were enrolled for this study (65% females), with a mean age of 49.77+11.32 years and a mean disease duration of 17.33+10.15 ...

We designed this study to investigate possible correlations between variables measuring primary motor cortex excitability detected by single and paired-pulse transcranial magnetic stimulation (TMS) and the severity of clinical manifestations in patients with multiple sclerosis (MS). Thirty patients with MS in remission, 16 with relapsing-remitting (RR), 14 with secondary progressive ...

The AFFIRM and SENTINEL studies showed that natalizumab was effective both as monotherapy and in combination with interferon beta (IFNbeta)-1a in patients with relapsing multiple sclerosis (MS). Further analyses of AFFIRM and SENTINEL data were conducted to determine the efficacy of natalizumab in prespecified patient subgroups according to baseline characteristics: ...

A female patient presented with erotomanic delusions of other female soldiers sexually harassing her and plotting to sexually assault her. On MRI, the patient was found to have numerous periventricular foci of signal changes extending into the deep white matter of both hemispheres. The MRI findings, along with lumbar puncture ...

In multiple sclerosis (MS) more than 95% of the patients have positive oligoclonal bands (OCB) in the cerebrospinal fluid (CSF). Previous studies have reported differences between patients with and without OCB mainly with regard to clinical parameters such as age, gender, disease duration, and clinical severity. However, several MRI characteristics ...

We examined: (i) neuro-axonal disturbance (as indicated by (1)H-MRSI NA/Cr values) in the cortical grey matter (cGM) of 10 untreated patients with relapsing-remitting (RR) and 10 with secondary-progressive (SP) multiple sclerosis (MS), and (ii) the relationships between cGM-NA/Cr values and the degree of EDSS-measured clinical disability and cerebral white-matter (WM) ...

Cytotoxic T-lymphocyte antigen-4 (CTLA-4) is an important molecule in the down-regulation of T-cell activation. A study was undertaken to evaluate the association of the CTLA-4 gene polymorphisms -319C/T, +49A/G, (AT)(n), CT60A/G and Jo31G/T with the levels of membrane CTLA-4 (mCTLA-4) and cytoplasmic CTLA-4 (cCTLA-4) in CD4(+) T lymphocytes from patients ...

There are two distinct phenotypes of multiple sclerosis (MS) in Asians, optic-spinal MS (OSMS) and conventional MS (CMS). In 2004, we performed the fourth nationwide epidemiological survey of MS. The epidemiological features were reported elsewhere; here we report the characteristic features of patients with each MS phenotype, classified according to ...

Cortical and subcortical atrophy occurs in multiple sclerosis (MS) and relates to clinical outcomes. FreeSurfer, a voxel-based automated software for brain reconstruction was used to investigate the extent of subcortical and cortical atrophy in 71 MS and 17 clinically isolated syndrome (CIS) patients, and 38 normal controls (NC), and to ...

BACKGROUND: Benign multiple sclerosis (MS) is defined by minimal or no disability after many years of observation, therefore a less degenerative disease process is suspected to be present in this subset of patients. OBJECTIVE: To compare brain atrophy rates in patients with long-standing benign MS vs typical early MS. DESIGN: ...

Hypoperfusion has been reported in lesions, normal-appearing white (NAWM) and gray matter (NAGM) of patients with clinically definite multiple sclerosis (MS) by using perfusion MRI. However, it is still unknown how early such changes in perfusion occur. The aim of our study was to assess the presence of hemodynamic changes ...

A recent study has shown that chitotriosidase (Chit) may play a role in the pathogenesis of multiple sclerosis (MS). Plasma Chit activity was investigated in 219 untreated MS patients and 160 healthy controls (HC) by means of a fluorometric enzyme activity assay. Chit activity was also measured in a subgroup ...