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1.
Asian Pac J Allergy Immunol ; 2007 Jun-Sep; 25(2-3): 163-7
Artículo en Inglés | IMSEAR | ID: sea-37202

RESUMEN

Hereditary angioedema (HAE) is an autosomal dominant disorder caused by a deficiency of C1 esterase inhibitor (C1-INH). Affected individuals have attacks of swelling involving almost any part of the body. We studied a family with 15 living members, including a 16-year-old girl who had 3 attacks of angioedema in 2 years. Her paternal uncle had died of asphyxiation during an attack 15 years previously. We analyzed the blood of each family member for C3, C4, and C1-INH levels and sequenced the SERPING1 (formerly C1NH) gene that codes for C1-INH. Six individuals had decreased serum levels of C4 and C1-INH, and they were all found to have a single nucleotide A deletion at codon 210 of the gene, 1210fsX210, a novel mutation that accounts for the HAE in this family.


Asunto(s)
Enfermedad Aguda , Adolescente , Angioedemas Hereditarios/genética , Secuencia de Bases , Proteínas Inactivadoras del Complemento 1/genética , Complemento C4/análisis , Proteínas del Sistema Complemento/análisis , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Mutación , Linaje , Serpinas/sangre , Taiwán
2.
Asian Pac J Allergy Immunol ; 2006 Jun-Sep; 24(2-3): 97-103
Artículo en Inglés | IMSEAR | ID: sea-36807

RESUMEN

The purpose of this study was to compare the safety and efficacy of cetirizine plus pseudoephedrine (C+P) with loratadine plus pseudoephedrine (L+P) in the treatment of perennial allergic rhinitis. This was a double blind, randomized, parallel trial with an active control. Subjects aged 12 to 70 years with perennial allergic rhinitis for at least 2 years were enrolled and randomized to receive either of the active study medications plus a placebo resembling the other, twice daily for 4 weeks. Nasal total symptom scale (NTSS) including sneezing, rhinorrhea, nasal itching and nasal stuffiness is evaluated by subjects daily and at baseline, 2 weeks, and 4 weeks by the investigator as efficacy measurement. A total of 51 eligible patients were enrolled and 45 patients completed the treatment course. Both groups had significant reductions in NTSS after 4 weeks of treatment as assessed by the subjects, but there was no significant difference between the two groups (mean +/- SD) reduction of 4.25 +/- 2.45 with C+P vs. 3.52 +/- 2.41 with L+P, p = 0.215. As assessed by the investigator, sneezing was significantly better at 2 weeks (-1.13 vs. -0.52, p = 0.028) and nasal congestion at 4 weeks (-1.71 vs. -1.19, p = 0.031) in subjects treated with C+P compared to those treated with L+P. There were 37 treatment-related adverse events (5 in 4 subjects in the C+P group and 32 in 16 subjects in the L+P group). It was concluded that both cetirizine plus pseudoephedrine and loratadine plus pseudoephedrine are efficacious for perennial allergic rhinitis in Taiwanese subjects. Relief of sneezing and nasal congestion may be marginally better with the cetirizine preparation, which also seemed to be slightly better tolerated, although the incidence of side effects did not differ significantly.


Asunto(s)
Adolescente , Adulto , Anciano , Cetirizina/administración & dosificación , Niño , Método Doble Ciego , Quimioterapia Combinada , Efedrina/administración & dosificación , Femenino , Humanos , Loratadina/administración & dosificación , Masculino , Persona de Mediana Edad , Rinitis Alérgica Perenne/complicaciones , Estornudo/efectos de los fármacos , Taiwán , Resultado del Tratamiento
3.
Asian Pac J Allergy Immunol ; 2005 Jun-Sep; 23(2-3): 159-63
Artículo en Inglés | IMSEAR | ID: sea-36574

RESUMEN

DiGeorge syndrome is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. Although most patients have a common microscopic deletion in chromosome 22q11.2, marked clinical variability exists. A solitary median maxillary central incisor (SMMCI) is a rare dental anomaly which may be an isolated occurrence or associated with congenital nasal airway abnormalities or holoprosencephaly. We report a patient with DiGeorge syndrome who was diagnosed at nearly 1 month of age and was later found to have a solitary median central incisor. Initially, the patient presented with recurrent episodes of respiratory distress attributed to partial airway obstruction, one of the phenotypic features of SMMCI. A fluorescence in situ hybridization study showed a chromosome 22q11.2 deletion.


Asunto(s)
Anomalías Múltiples , Obstrucción de las Vías Aéreas/complicaciones , Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Síndrome de DiGeorge/complicaciones , Femenino , Humanos , Hibridación Fluorescente in Situ , Incisivo/anomalías , Recién Nacido , Maxilar/anomalías , Linaje , Síndrome de Dificultad Respiratoria del Recién Nacido/diagnóstico
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