Detection of inheritance pattern in thirty-three Mexican males with chronic granulomatous disease through 123 dihydrorhodamine assay

BACKGROUND: There are two inheritance patterns, the X-linked recessive (XL) pattern and the autosomal recessive pattern. There is no information on the predominant inheritance pattern of male patients with chronic granulomatous disease (CGD) in Mexico. OBJECTIVE: The aim of this study was to determine the inheritance pattern in a cohort of Mexican male patients with CGD by means of the detection of an XL status carrier among their female relatives, and to describe the frequency of discoid lupus (DL) among carriers. METHODS: We detected the female relatives within the families of male patients with CGD, and carried out the 123 dihydrorhodamine (DHR) assay in all female participants. All carriers were questioned for current or past established DL diagnosis. RESULTS: We detected 33 families with one or more CGD male patients; we found an XL-CGD in 79% of the relatives from at least one female relative with a bimodal pattern. For the remaining seven relatives we were not able to confirm a carrier status by means of a DHR assay. Moreover, we detected one mother with CGD secondary to skewed X-chromosome inactivation. We also found 47 carriers, and only one carrier with DL among them. CONCLUSION: We concluded that XL-CGD is the most frequent form of CGD in a cohort of CGD male patients in Mexico. DHR assay is a fast and practical tool to determine the CGD form in the Latin-American countries. Finally, DL frequency in Mexico is lower than that reported in the literature for other regions of the world

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A case-control study of food hyper-sensitivity, timing of weaning and family history of allergies in young children with atopic dermatitis / Estudio de con control de casos de hipersensibilidad a alimentos, tiempo de destete e historia familiar de alergia en niños pequeños con dermatitis atópica

Background: The aim of this study was to investigate the relationship between food hypersensitivity and atopic dermatitis (AD) in young children. Material and methods: In a case-control design, 28 patients < 3 years old, with AD and 28 age-matched healthy children were included in the study. A detailed medical history of allergies and timing of weaning was obtained. Children underwent skin tests (prick and patch) to evaluate food hypersensitivity. The status of DA and food allergies in the study participants was investigated 4 years later. Results: There were more children with positive skin tests for food hypersensitivity among cases than controls, OR 4.2 (95 %CI 1.3 to 13.4). In contrast, there were no differences in the number of children with positive family history of allergic diseases or weaned at ≤ 6 months of age between groups. Four years later, out of the 28 original cases, the state of AD was investigated in 13 (46.4 %) infants. Of them, 11 followed an exclusion diet; 6 (46.1 %) remained with AD. Of 28 original controls, 15 (51.7 %) infants were investigated 4 years later; only one case developed AD. Conclusions: Young children who had hypersensitivity to cow's milk, hen egg, wheat, fish, soy, or legumes were found to have a higher risk of AD. Positive family history of allergies and early weaning were not found to be relevant risk factors

Objetivo: Investigar la relación entre hipersensibilidad a alimentos y dermatitis atópica (DA) en niños pequeños. Material y métodos: En un diseño de casos y controles, se incluyeron 28 pacientes menores de 3 años de edad, con DA, y 28 niños sanos pareados por la edad. Se obtuvo una historia médica detallada de alergias y tiempo de destete. Los niños se sometieron a pruebas cutáneas (de punción y de parche) para evaluar hipersensibilidad a alimentos. El estado de la DA y la hipersensibilidad a los alimentos de los participantes se investigó 4 años más tarde. Resultados: Se identificó a un número mayor de niños con hipersensibilidad a los alimentos entre los casos respecto a los controles, odds ratio (OR) 4.2 (95%CI 1.3 a 13.4). No se observaron diferencias en el número de niños con historia familiar de enfermedades alérgicas positiva o destetados a los  6 meses de edad. Cuatro años más tarde, de los 28 casos estudiados originalmente, investigamos el estado de la DA en 13 (46.4%) niños. De ellos, 11 siguieron una dieta de exclusión y 6 (46.1%) continuaron con DA. De los 28 controles incluidos originalmente, 15 (51.7%) controles fueron evaluados 4 años más tarde y sólo un caso desarrolló DA. Conclusión: Encontramos un mayor riesgo de DA en los niños pequeños que tuvieron hipersensibilidad a la leche de vaca, huevo de gallina, trigo, pescado, soja, o legumbres. Una historia familiar positiva de alergia y el destete temprano no fueron identificadas como factores de riesgo relevantes

Quality of life in pediatric patients with asthma with or without obesity: a pilot study

Background: In addition to the increased incidence of asthma, obesity in asthmatic children is also on the rise. Several studies have been performed to determine whether obesity could be a risk factor for asthma, but this association has not been demonstrated in all patients. The Pediatric Asthma Quality of Life Questionnaire (PAQLQ) is a standardized and validated tool for use in the pediatric population, which evaluates the effect of asthma on patients' daily activities. Methods and results: To determine the effect of obesity and overweight on quality of life, the PAQLQS was applied to 100 pediatric patients with intermittent asthma and mild persistent asthma and obesity, overweight and normal weight. The results of the three dimensions evaluated in the questionnaire (emotions, symptoms and limitation of activities) showed significant differences in quality of life in the obese asthmatic group only (p < 0.000). No differences were found when the groups with and without overweight were compared. Conclusions: The PAQLQ revealed a significant difference in the quality of life in obese asthmatic patients. Overweight and normal weight had no effect quality of life (AU)

Introducción: Además del aumento en la prevalencia de asma la obesidad está incrementando en pacientes asmáticos. Muchos estudios han sido realizados para determinar si la obesidad puede ser un factor de riesgo para presentar asma, sin embargo esta relación no ha sido evidente en todos los casos. El cuestionario Pediatric Asthma Quality of Life (PAQLQS) es una herramienta estandarizada y validada para su uso en niños evaluando qué tanto afecta el asma las actividades diarias del paciente. Métodos y resultados: Se aplico el PAQLQS a 100 pacientes pediátricos con asma intermitente y leve persistente con obesidad, sobrepeso y peso normal para valorar si la obesidad y el sobrepeso afectaban más su calidad de vida. En los resultados de los 3 niveles evaluados en el cuestionario (emociones, síntomas y limitación de actividades) sólo el grupo de obesos asmáticos tuvo una diferencia significativas en la calidad de vida (p < 0,000). No hubo diferencias al comparar al grupo de peso normal y sobrepeso. Conclusiones: Al evaluar a los pacientes a través del cuestionario de calidad de vida se encontró una diferencia significativa en la afección de pacientes asmáticos obesos, sin embargo el sobrepeso no necesariamente afecto la calidad de vida (AU)