ABSTRACT
OBJECTIVES: To describe non-relapse-related emergency consultations of patients with multiple sclerosis (MS): causes, difficulties in the diagnosis, clinical characteristics, and treatments administered. METHODS: We performed a retrospective study of patients who attended a multiple sclerosis day hospital due to suspected relapse and received an alternative diagnosis, over a 2-year period. Demographic data, clinical characteristics, final diagnosis, and treatments administered were evaluated. Patients who were initially diagnosed with pseudo-relapse and ultimately diagnosed with true relapse were evaluated specifically. As an exploratory analysis, patients who consulted with non-inflammatory causes were compared with a randomly selected cohort of patients with true relapses who attended the centre in the same period. RESULTS: The study included 50 patients (33 were women; mean age 41.4⯱â¯11.7 years). Four patients (8%) were initially diagnosed with pseudo-relapse and later diagnosed as having a true relapse. Fever and vertigo were the main confounding factors. The non-inflammatory causes of emergency consultation were: neurological, 43.5% (20 patients); infectious, 15.2% (7); psychiatric, 10.9% (5); vertigo, 8.6% (4); trauma, 10.9% (5); and miscellaneous, 10.9% (5). CONCLUSIONS: MS-related symptoms constituted the most frequent cause of non-inflammatory emergency consultations. Close follow-up of relapse and pseudo-relapse is necessary to detect incorrect initial diagnoses, avoid unnecessary treatments, and relieve patients' symptoms.
Subject(s)
Multiple Sclerosis , Referral and Consultation , Adult , Chronic Disease , Female , Humans , Multiple Sclerosis/diagnosis , Recurrence , Retrospective StudiesABSTRACT
BACKGROUND: The polymorphic enzyme human serum paraoxonase 1 (PON1), encoded by the gene PON1 (chromosome 7q21.3), plays a major role in the metabolism of organophosphorus compounds. We investigated the possible association between the PON1 genotype and allelic variants of the polymorphisms Leu55Met and Glu192Arg, and the risk for essential tremor (ET). METHODS: We studied the frequency of the PON1 genotypes and allelic variants in 201 patients with ET and 220 healthy controls using a PCR-RLFP method. RESULTS: The frequencies of the PON1 genotypes and allelic variants of the polymorphisms Leu55Met and Gln192Arg did not differ significantly between patients with ET and controls. These polymorphisms were unrelated with the age of onset of ET. CONCLUSIONS: PON1 polymorphisms are not related with the risk for ET.
Subject(s)
Aryldialkylphosphatase/genetics , Essential Tremor/genetics , Genetic Predisposition to Disease , Aged , Female , Humans , Male , Middle Aged , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Polymorphism, Single Nucleotide , Risk FactorsABSTRACT
Glutathione-S-transferases (GST) are polymorphic enzymes that participate in the metabolism of carcinogens (including those of tobacco smoke) and pesticides. We investigated the possible association between the GSTP1 genotype and allelic variants and the risk for essential tremor (ET). We studied the frequency of the GSTP1 genotypes and allelic variants in 200 patients with ET and 220 healthy controls using PCR-RFLP method. The association between GSTP1 polymorphism and the exposure to some environmental factors (agricultural work, pesticides, well-water and smoking-cigarettes habit) was also studied in a subgroup of patients. The frequencies of the GSTP1 genotypes and allelic variants did not differ significantly between patients with ET and controls or between patients with ET exposed to agricultural work, well water and cigarette smoking versus those non-exposed. Mutated allelic variants were significantly more frequent in patients with ET exposed to pesticides versus those non-exposed. GSTP1 polymorphism was unrelated with the age of onset of ET. GSTP1 genotypes and allelic variants were not related with the risk for ET with the possible exception of those patients exposed to pesticides.
Subject(s)
Essential Tremor/etiology , Essential Tremor/genetics , Genetic Predisposition to Disease , Glutathione S-Transferase pi/genetics , Polymorphism, Genetic/genetics , Risk , Adult , Aged , Female , Gene Frequency , Genotype , Humans , Male , Middle Aged , Pesticides/toxicityABSTRACT
INTRODUCTION: The main treatment for choreatic movements associated to Huntington s disease are the neuroleptic drugs, however, its use causes long term troubles. CASE REPORTS: We describe two patients with a predominantly choreic Huntington s disease, who experience improvement of choreatic movements after introduction of olanzapine to their treatment, being this drug well tolerated. CONCLUSIONS: The improvement of chorea suggests that olanzapine has a dopaminergic D2 receptors blocking action.
Subject(s)
Chorea/drug therapy , Dopamine Antagonists/therapeutic use , Huntington Disease/drug therapy , Pirenzepine/analogs & derivatives , Pirenzepine/therapeutic use , Selective Serotonin Reuptake Inhibitors/therapeutic use , Benzodiazepines , Chorea/etiology , Dopamine D2 Receptor Antagonists , Humans , Huntington Disease/complications , Male , Middle Aged , OlanzapineABSTRACT
INTRODUCTION: The main clinical feature of the opercular syndrome (Foix Chavany Marie) is the automatic voluntary dissociation of the facio glosso pharyngeal movements (that is, the alteration of voluntary motility with preservation of authomatic movements). Less frequently, it is presented with movement disorders as dystonia. CASE REPORT: We report a male patient aged 40 years who developed a biopercular syndrome of vascular etiology (confirmed by neuroimaging), in the context or a clinical picture of global hipoxemia, for which the most outstanding clinical manifestation was the presence of dystonic posturing. CONCLUSION: Although dystonia is usually related with damage or dysfunction of the basal ganglia or thalamus, in some case it can be caused by lesions in other locations, such as in some patients with biopercular syndrome as in the present case
Subject(s)
Dystonia/etiology , Hand , Pseudobulbar Palsy/complications , Adult , Humans , MaleABSTRACT
OBJECTIVE: To elucidate whether cerebrospinal fluid (CSF) concentrations of the microtubule-associated tau protein are related to the risk for sporadic amyotrophic lateral sclerosis (SALS). PATIENTS/METHODS: We measured tau concentrations in the CSF of 18 patients with SALS and 75 age- and sex-matched controls, using a specific ELISA method. RESULTS: The mean CSF concentrations of tau protein did not differ significantly between SALS patient and control groups, were not influenced by the clinical form (spinal vs bulbar) of ALS, and were not correlated with age, age at onset, and duration of the disease. CONCLUSIONS: CSF tau concentrations are not a biochemical marker of ALS.