Our data suggest that a genetic approach could be useful in providing molecular support to the hypothesis that hypersensitivity of the dopaminergic system may represent the pathophysiologic basis of migraine, at least in a subgroup of patients.
Genetic variation within triatomine bugs was investigated by amplification of a 400 bp portion of the mitochondrial 16S ribosomal RNA gene by polymerase chain reaction (PCR), using evolutionarily conserved primers, from a selection of species representative of the genera Rhodnius, Triatoma and Panstrongylus. Amplification products were subsequently screened for sequence variation using single strand conformational polymorphism analysis (SSCP) and also subjected to direct sequencing. Single strand conformational polymorphism analysis could detect variation within and between genera; intraspecific variation was also detected and SSCP profiles appear to be useful for identification purposes at the inter-and intraspecific levels. A 290 bp multiple alignment of 15 sequences obtained from nine species was generated, phylogenetic inference subsequently used three methods; a distance estimate, maximum parsimony and maximum likelihood. This 16S region exhibited considerable variation which ranged from intergeneric to intraspecific levels. Phylogenies from these three methods of inference were in broad agreement. Triatoma and Panstrongylus were more closely related to each other than either was to Rhodnius, in keeping with the current taxonomic appraisal.
The aim of this study was to test genetic differences in the clinical response to rizatriptan in patients affected by migraine without aura. These genetic differences could be explained by various genes, the HTR1B, encoding the 5-HT1 receptor subtype, MAO-A gene that encodes the monoamino-oxidase, the main metabolic enzyme of this triptan, SLC6A4 (gene encoding the serotonin transporter) and DRD2 (gene encoding the D2 receptor), both involved in the pathogenesis of migraine. Fifty unrelated patients affected by migraine without aura (IHS) were included. Patients were divided into two groups (responders and non-responders) according to clinical response. Thirty-one out of fifty patients responded to rizatriptan. A significant difference among the two groups was observed in both allele (p=0.02) and genotype distribution (p=0.03) of DRD2/NcoI. The significant association with the DRD2/NcoI polymorphism in responders suggested that the DRD2/NcoI C allele may be considered a susceptibility factor heralding a good response to rizatriptan.
A cohort of patients at various stages of lithium treatment was followed up for 6 years in order to evaluate the course of thyroid abnormalities. Ultrasonography confirmed that lithium can increase thyroid size, especially in cigarette smokers, and that it can affect the texture of the gland. However, the incidence of clinical hypothyroidism or specific thyroid autoimmunity does not exceed that found in the general population. Repeated determinations of thyrotrophin (TSH) concentrations can prevent clinically relevant consequences. Addition of carbamazepine to lithium can counteract lithium-induced subclinical hypothyroidism, possibly improving prophylactic efficacy in recurrent affective disorders.
Background: Marfan's syndrome is an inherited disorder of connective tissue associated with characteristic abnormalities of the skeletal, ocular, and cardiovascular systems. Marked clinical variability and age dependency of all manifestations of Marfan's syndrome may render the unequivocal diagnosis difficult in mildly affected, young subjects.
Hypothesis: The study and care of a 32‐year‐old woman with evidence of Manfan's syndrome, several cardiac abnormalities, and paranoid schizophrenia led to an investigation of her consenting relatives to verify the penetrance of Marfan's syndrome and the degree of comorbidity between the disease and psychiatric disorders.
Methods: The patient and 12 subjects belonging to three generations of her family underwent cardiovascular, skeletal, ophthalmologic, and psychiatric examinations. Two‐dimensional and Doppler echocardiography were performed.
Results: One female index patient and six of her first‐degree relatives were found to be affected by Marfan's syndrome. All seven patients were found to have mitral valve prolapse associated with other cardiac abnormalities. Four of these patients were affected by the following psychiatric disorders: generalized anxiety disorder, major depressive disorder, paranoid schizophrenia (two cases). Six more relatives without Marfan's syndrome showed mitral valve prolapse in association with other echocardiographic features. Two of these were found to be affected by a major depressive disorder.
Conclusions: The present data support the hypothesis that a psychiatric condition, associated with a significantly high frequency of cardiac involvement, may be part of the phenotype of Marfan's syndrome.
A rare case of amiodarone-iodine-induced thyrotoxicosis (AIIT) associated with nonthyroidal illness is reported. Serum total thyroxine (TT4) and free T4 (FT4) concentrations were elevated and serum TSH was undetectable as frequently observed also in euthyroid amiodarone-treated patients. At variance with common forms of AIIT, serum total triiodothyronine (TT3) was reduced due to low-T3 syndrome. The laboratory diagnosis was made on the basis of elevated free T3 (FT3) levels. Thus, in patients with severe nonthyroidal illness submitted to chronic amiodarone treatment, thyroid status can only be determined by free hormone measurement, particularly FT3 in the case of thyrotoxicosis.
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