RESUMO
BACKGROUND: The physiopathogenic mechanism of nasal polyposis is unknown. Chemical mediators found in nasal polyposis are: histamine, serotonin, leukotrienes (LTC4, LTD4, LTE4, LTB4), norepinephrine and possibly prostaglandin D2. Leukotrienes that mediate bronchoconstriction as well as chemical mediators of inflammation are observed in the nasal disease associated to polyposis. HYPOTHESIS: Antileukotrienes might play a significant role in controlling polyposis and symptoms due to sinonasal disease. They represent an alternative to conventional treatments with oral steroids as well as to operations in the long-term control. OBJECTIVE: This study is a one year investigation that evaluates the important role of leukotriene receptor antagonists on nasal polyposis, with or without association to any allergic disease. Likewise, it compares its use with the conventional therapy used in the above mentioned disease. PATIENTS AND METHODS: We included 30 patients, 12 men (40%) and 18 women (60%), with ages between 16-45 years old. The mean age was of 20.7 years. Systematic assessments were made at the beginning of the study, as well as in the third, sixth, ninth, and twelfth month. Objective assessments, computed axial tomography of paranasal sinuses, allergological tests, nasal and bronchial symptoms evaluation, and interleukines, eosinophils, and immunoglobulin determinations were made. RESULTS: There was an improvement of nasal symptoms in the patients of group 1 (montelukast plus beclomethasone). They included the respiratory ones (p < 0.05), the nasal washing cells (p < 0.05), and the peak flow (p < 0.05) at the third, sixth, and twelfth months, respectively. There was no significant difference with the improvement obtained in the patients of group 3 (surgery-montelukast-beclomethasone) (p < 0.05). There was no significant change in group 2 regarding the baseline in the studied variables (p > 0.05).
Assuntos
Acetatos/uso terapêutico , Asma/complicações , Antagonistas de Leucotrienos/uso terapêutico , Pólipos Nasais/tratamento farmacológico , Quinolinas/uso terapêutico , Adolescente , Adulto , Beclometasona/uso terapêutico , Terapia Combinada , Ciclopropanos , Citocinas/sangue , Quimioterapia Combinada , Endoscopia , Eosinófilos , Efedrina/uso terapêutico , Feminino , Seguimentos , Humanos , Interleucinas/sangue , Contagem de Leucócitos , Leucotrienos/metabolismo , Loratadina/uso terapêutico , Masculino , Pessoa de Meia-Idade , Pólipos Nasais/sangue , Pólipos Nasais/etiologia , Pólipos Nasais/cirurgia , SulfetosRESUMO
We analysed DNA through Southern blot and polymerase chain reaction using blood samples of northeastern Mexican families affected by hemophilia A. Our aim was to identify possible carriers of the mutated gene by indirect detection using the Bcl I polymorphism (RFLP) at intron 18 of the factor VIII gene. The sample studied consisted of 43 individuals within eight families with hereditary hemophilia A. Of 17 possible carrier women, three were positive, five were negative, and in the remaining nine, the lack of informativeness (heterozygosity for the polymorphism) of their mothers precluded reaching conclusions. The frequencies found for the Bcl I polymorphism were 63% for the 1.2 kb allelic fragment and 37% for the 0.9 kb allelic fragment. Heterozygote women were found in 48.2% of the families studied. Our results show that probably, the Bcl I RFLP is more useful for HA carrier diagnosis in our sample (northeastern Mexico).
Assuntos
Fator VIII/genética , Hemofilia A/genética , Alelos , Southern Blotting , Feminino , Genes , Triagem de Portadores Genéticos , Hemofilia A/epidemiologia , Humanos , Incidência , Íntrons , Masculino , México , Linhagem , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de RestriçãoRESUMO
Accordingly, we have established in our unit a DNA diagnosis laboratory and have started molecular genetics and epidemiological studies of several inherited diseases. We have started with cystic fibrosis, muscular dystrophy and hemophilia A. We practice the molecular diagnosis with both, Southern transfer and the polymerase chain reaction, using either direct (detection of mutations) or indirect (restriction fragment length polymorphisms) approaches. With the studies we have so far carried out, we have been able to provide genetic counseling and gained valuable information on the type and frequency of mutation associated to these diseases in our region.