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Biomedical subjects

C de Andrés

Publications and source records attributed to C de Andrés.

At least 19 recordsLinked to original sources

[Autoimmune hepatitis in patients with a diagnosis of multiple sclerosis].

Autoimmune hepatitis (AIH) is a chronic necroinflammatory liver disorder associated with hypergammaglobulinemia and circulating autoantibodies. Two patients previously diagnosed with multiple sclerosis who developed AIH are reported. One patient showed acute presentation with fulminant hepatic failure requiring liver transplantation. Serum autoantibodies were negative in both patients but a characteristic clinical course in the first patient as well as the hepatic histological features with typical pathological changes of AIH in both patients and a score compatible with AIH established the diagnosis.

Adult↗

Quality of life in multiple sclerosis patients in Spain.

OBJECTIVE: The cross-sectional study evaluated the psychometric properties of the Functional Assessment of Multiple Sclerosis (FAMS) Spanish version and its use in measuring quality of life (QOL) of multiple sclerosis (MS) patients in Spain. METHODS: The FAMS is a factorially derived self-report scale designed to assess six primary aspects of QOL of patients with MS: Mobility, Symptoms, Emotional Well-Being, General Contentment, Thinking and Fatigue, and Family/Social Well-Being. Its Spanish translated version was used to assess QOL of 625 MS patients recruited in an outpatient clinic setting from 58 hospitals in Spain. Internal consistency of the Spanish FAMS was evaluated Multiple regression analyses were performed to identify significant predictors from demographic, clinical and treatment characteristics, and Kurtzke Expanded Disability Status Scale (EDSS) scores in predicting FAMS scale scores. RESULTS: Most of the patients are females (66%), and 74% were of the relapsing-remitting (RR) clinical subtype. Cronbach's alpha coefficients were high (range=0.78-0.96), indicating subscale homogeneity comparable to that of the original English version. Linear multivariate regression analyses revealed that the EDSS is a dominant variable in predicting all the FAMS subscales, especially mobility (R2=0.51) and the total scores. CONCLUSIONS: The Spanish FAMS is a psychometrically valid instrument that allows clinicians and clinical researchers the ability to measure the QOL concerns of MS patients in Spain.

Adult↗

Frequency and significance of anti-Ro (SS-A) antibodies in multiple sclerosis patients.

OBJECTIVE: To determine the frequency and significance of antinuclear (ANA), anticardiolipin (ACA) and anti-Ro (SS-A) antibodies in multiple sclerosis (MS) patients. METHODS: ANA (indirect immunofluorescence), ACA and anti-Ro (SS-A) antibodies (ELISA) were tested in sera of 42 patients with Poser defined MS and 50 healthy individuals. RESULTS: High levels of anti-Ro (SS-A) antibodies were found in 3 patients (7%) (vs 0 in the control group). Two of them had normal salivary gland biopsy. Clinical MS form was chronic-progressive in 2 cases and relapsing-remitting in the third one. Ten patients (23%) had low levels of ANA (vs 4%), none of them positive for anti-Ro (SS-A) antibodies. Only 1 patient (2%) with RR clinical form had ACA (vs 0). No clinical or neuroradiological differences with conventional MS patients were observed. CONCLUSIONS: ANA, ACA and anti-Ro (SS-A) antibodies in MS patients indicate an underlying autoimmune disease but our series suggests that they are an epiphenomenon of a more diffuse immunological dysfunction.

Adult↗

Serum levels of coenzyme Q10 in patients with multiple sclerosis.

To elucidate whether serum coenzyme Q10 levels are related with the risk for multiple sclerosis (MS) or are a marker for the activity of the disease, we compared serum levels of coenzyme Q10 and the coenzyme Q10/cholesterol ratio, in 31 patients with MS (during exacerbations) and 19 matched controls using a high performance liquid chromatography technique. The mean serum coenzyme Q10 levels and the coenzyme Q10/cholesterol ratio did not differ significantly between the 2 study groups. The values did not correlate with age, age at onset, and duration of the disease. These results suggest that serum coenzyme Q10 concentrations are unrelated with the risk for MS and are not a useful marker of activity of the disease.

Adult↗

Cerebrospinal fluid nitrate levels in patients with multiple sclerosis.

It has been suggested that nitric oxide (NO) could be implicated in the pathogenesis of multiple sclerosis (MS). Recently, two groups reported increased cerebrospinal fluid (CSF) nitrate levels (oxidation product that provides an indirect estimation of NO) in MS patients. However, another group did not confirm these findings. We studied the CSF and plasma levels of nitrate with a kinetic cadmium reduction method in 11 MS patients and 25 matched controls. The CSF nitrate levels and the CSF/plasma nitrate ratio did not differ significantly between the two study groups. Plasma nitrate levels were nearly significantly lower in MS patients. CSF and plasma nitrate levels did not correlate with age at onset and duration of the disease in the patient group. These data suggest that measurement of CSF levels of nitrate is not a marker of the activity of MS.

Adult↗

Cerebrospinal fluid levels of alpha-tocopherol in patients with multiple sclerosis.

We compared cerebrospinal fluid (CSF) and serum levels, and the CSF/serum ratio of alpha-tocopherol (vitamin E), measured by HPLC, in 36 patients with multiple sclerosis (MS) and 32 matched controls. The mean CSF vitamin E levels and the CSF/serum vitamin E ratio did not differ significantly between the two study groups. The serum levels of vitamin E and the serum vitamin E/cholesterol ratio were significantly lower in MS patients when compared with controls (P < 0.05 and P < 0.01, respectively). These values were not correlated with age, age at onset and duration of the disease in the patients group. These results suggest that CSF vitamin E concentrations are not a marker of activity of MS activity.

Adult↗

[Information about the diagnosis: a subjective experience of patients with multiple sclerosis and rheumatoid arthritis].

INTRODUCTION: It may be difficult to determine the adequate mement, the information content and the most convenient person to inform patients with chronic, incurable disorders with uncertain prognosis as sclerosis multiple (MS). MATERIAL AND METHODS: To gain information on how these aspects had been carried-out and the extent to which patients felt satisfied, we studied 60 definite MS ambulatory patients by means of a semistructured questionnaire attending a hospital-based MS unit. The results were compared with those from 40 patients with rheumatoid arthritis (RA), a chronic disabling disorder of the locomotor system with variable course, examined in a similar way. RESULTS: In the vast majority of patients (81.7 and 82.9%, respectively) in both groups the diagnosis had been delivered by a specialist, a point on which most patients agreed upon as convenient. However, most MS patients (78.4%) and nearly all of those with RA (97.6%) should have desired to receive information on their diagnosis as soon as this might had been firmly established. Though more than half the patients (61.7 of MS and 56.1% of RA) admitted to have developed depressive symptoms following information on their diagnosis, a majority expressed their desire to have been informed early about 'all the truth' regarding their prognosis (78.4 and 87.8%, respectively). CONCLUSIONS: Though data from this study should be taken with caution when applied to MS patients shortly after experiencing their first symptoms, and it is therefore unwise to give rigid rules, the vast majority of MS patients express the desire to receive early, accurate, and individualized information on their diagnosis provided by a competent specialist.

Adult↗

[Abnormal movements in a case of extrapontine myelinolysis. Review of the literature].

INTRODUCTION AND CLINICAL CASE: We present a case of extra-pontine myelinolysis caused by acute hypernatraemia in which a complex picture of late onset extrapyramdial features, choreodystonia and parkinsonism developed. Repeated physical examinations, neurophysiological and neuroimaging studies using magnetic resonance all indicated an extra-pontine site of the lesions, which symmetrically affected the striate and to a lesser extent both thalami. We review the relevant literature available and analyze the cases described as having abnormal movements associated with a myelinolytic syndrome. CONCLUSIONS: Extra-pontine myelinolysis is a cause of acquired dystonia, chorea and parkinsonism, generally of late onset and with varying response to treatment. The association of hypernatraemia, hyperglycaemia and liver transplant seem to predispose to the development of extra-pontine lesions.

Acute Disease↗

[Phenomenology of motor crisis in non-epileptic patients with psychogenic crises].

INTRODUCTION: Recognition of different ictal motor patterns in psychogenic seizures may be useful in terms of differentiation from epileptic seizures and may also improve understanding the underlying psychopathology. OBJECTIVE: To outline recognizable ictal motor patterns that may help to distinguish psychogenic motor seizures from epileptic convulsive episodes. PATIENTS AND METHODS: Chart review from 54 patients with motor psychogenic seizures and no clinical or EEG evidence of concomitant epilepsy. RESULTS: Only 5 patients (9.2%) experienced more than one ictal motor pattern along their illness. Categorization into four subtypes according to ictal motor behaviour was possible in all other patients: psychogenic seizures with flaccid unconsciousness (32.6%), combativeness (32.6%), a hypermobile subtype (24.4%) as defined by the presence of intentional movements or slow rhythmic oscillations of a segment or the entire body, and rigidity (10.2%). CONCLUSIONS: Many psychogenic motor seizures consistently present with recognizable motor phenomena which may be readily identified providing the availability of a reliable witness. Psychogenic seizures as presented spontaneously in a general neurology setting may differ from those reported in biased referrals to video-EEG laboratories. Recognition of characteristic patterns may help differentiation from tonic-clonic convulsions, avoid unnecessary examinations, and may provide insights into their underlying psychopathological mechanisms.

Adolescent↗

[Fatty diet and multiple sclerosis].

INTRODUCTION AND DEVELOPMENT: Multiple sclerosis (ME) is an inflammatory disease of the myelin of the central nervous system, the origin of which is still unknown. Genetic, infectious, immunological and environmental factors have all been blamed, but none of these factors on their own can explain the whole spectrum of this disease. Of the environmental factors, fat in the diet has given rise to most discussion. At the present time, it is known that polyunsaturated essential fatty acids form a part of biological membranes. A relationship has been found between the dietary fat consumed and the plasma levels and cell membrane content. CONCLUSIONS: The possible immuno-modulation function of these fatty acids justify rigorous evaluation of this hypothesis.

Arteriosclerosis↗

Frequency of CYP2D6 allelic variants in multiple sclerosis.

Recent reports have shown association between CYP2D6 polymorphism and neuronal degenerative diseases such as Parkinson's disease. We investigated the association between this polymorphism and the risk for developing multiple sclerosis (MS). Leucocyte DNA from 118 MS patients and a control group of 200 unrelated healthy individuals was studied for the occurrence of 8 different CYP2D6 allelic variants by using allele-specific PCR amplification, XbaI and EcoRI RFLP analyses. The frequencies for these allelic variants in the MS and control groups were, respectively: CYP2D6wt 75.0% and 79.3%, CYP2D6A 0.4% and 1.3%, CYP2D6B 11.4% and 12.0%, CYP2D6C 4.2% and 2.0%, CYP2D6D 3.0% and 2.3%, CYP2D6L 0.8% and 0.3%, CYP2D6L2 5.1% and 3.0%. The frequencies of subjects with high CYP2D6 activity (those carrying two or more functional genes) were 77.1% and 73.5% in MS and control groups. The frequencies of subjects with absent CYP2D6 activity (those lacking functional genes) were 3.4% and 4.5% in MS and control groups, respectively. These results indicate that mutations at the CYP2D6 gene do not seem to be a factor in determining susceptibility to MS.

Alleles↗

[Familial spastic paraparesis: phenotypic variant of adrenoleukodystrophy].

Two brothers developed a slowly progressive paraparesis during adulthood, lately associated in one to primary adrenal and gonadal insufficiency but no electrophysiological evidence of peripheral nerve involvement. Both patients and an asymptomatic sister had increased plasma concentrations of very-long chain fatty acids (VLCFA). A CT-scan of the propositus was initially normal but showed at follow-up diffuse white matter hypodensities consistent with severe demyelination of the centrum semiovale. The appearance of the lesions remained unchanged for the next two years without clinical evidence of supraspinal changes in despite of progression of the paraparesis. We believe that these observations further support a link between the severe infantile variety of adrenoleukodystrophy and the more protracted adult-onset variants. Further, CT-scan in families with spastic paraparesis may be of help in detecting early evidence of an underlying diffuse white matter disorder, eventually supported by more conclusive studies as VLCFA determinations.

Adrenoleukodystrophy↗