[Outcome of two patients with Hurler's syndrome under enzyme replacement therapy with human recombinant alpha-L-iduronidase]. / Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana alpha-L-iduronidasa.

We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant alpha-L-iduronidase for 452 and 28 weeks respectively. The aim of this study was to analyze the safety and efficacy of the intervention during the treatment periods. Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients.

Evolución de dos pacientes con síndrome de Hurler en tratamiento con enzima recombinante humana α -L-iduronidasa / Outcome replacement of two patients with Hurler´s syndrome under enzyme replacement therapy with human recombinant α -L-iduronidase

Estudio prospectivo de 2 pacientes con enfermedad de Hurler (de 4,8 años y 17 meses de edad al inicio de la intervención) en tratamiento enzimático sustitutivo con enzima recombinante humana α -L-iduronidasa durante 52 y 28 semanas, respectivamente, con el objetivo de analizar la eficacia y seguridad de la intervención durante dicho período de tiempo. Se realizaron para ello diversas pruebas diagnósticas por imagen, exámenes clínicos y analíticos seriados que demostraron en ambos casos ser una terapia efectiva. En el caso 1 (varón de 4,8 años, homocigoto W402X) la intervención se planteó con fines paliativos desde el comienzo debido a su estado clínico muy evolucionado. En el caso 2 (mujer de 17 meses, heterocigota para W402X) la intervención se realizó de forma precoz y se observó una estabilización clínica posterior sin la adquisición de factores regresivos. Posteriormente se realizó con éxito un trasplante de médula ósea de donante no emparentado. Actualmente, ante la carencia de donantes de médula ósea histocompatibles, se está realizando trasplante de células madre hematopoyéticas procedentes de cordón o de sangre periférica con resultados satisfactorios. La terapia génica se considera el tratamiento futuro capaz de prevenir la enfermedad asociada al síndrome de Hurler y detener el deterioro neurocognitivo característico de estos pacientes.

We performed a prospective study of two patients with Hurler's syndrome (aged 4.8 years and 17 months at the beginning of the intervention) under enzyme replacement therapy with human recombinant α -L-iduronidase for 452 and 28 weeks respectively. The aim of this study was to analyze the safety and efficacy of the intervention during the treatment periods. Several diagnostic imaging tests, clinical examinations, and serial laboratory determinations were performed to demonstrate the effectiveness of the therapy in both patients. In patient 1 (a boy aged 4.8 years, homozygote W402X), the treatment was always intended to be palliative because of the advanced stage of the disease. In patient 2 (a 17-month-old girl, heterozygote W402X) the treatment was initiated early with subsequent clinical stabilization without acquisition of regressive factors. Bone marrow transplantation from an unrelated donor was successful. Currently, because of the lack of histocompatible bone marrow donors, transplantation of hematopoietic stem cells from umbilical cord blood or peripheral blood are being performed with satisfactory results. In the future, gene therapy may be able to prevent the diseases associated with Hurler's syndrome and halt the neurocognitive deterioration characteristic of these patients

[Erythema nodosum: etiological changes in the last two decades]. / Eritema nudoso: modificación etiológica en las dos últimas décadas.

OBJECTIVE: To study the etiological factors associated with erythema nodosum in children hospitalized between January 1985 and December 2003. MATERIAL AND METHODS: We performed a retrospective, descriptive study through review of the medical records of children with a diagnosis of erythema nodosum (MBDS-ICD 9-CM, code 6952). Forty-five patients (27 boys and 18 girls) aged between 10 months and 14 years were studied. The following variables were analyzed: age, sex, associated symptoms, complementary investigations (blood count, erythrocyte sedimentation rate, throat swab, chest x-ray, Mantoux test, ASLO titer, stool culture, serology) and final diagnosis. RESULTS: The most frequent etiology was tuberculosis (10 patients), followed by Salmonella enteritidis (7 patients), group A beta -hemolytic Streptococcus (3 patients), Salmonella typhimurium (2 patients), Campylobacter jejuni (2 patients), Yersinia enterocolitica (1 patient), infectious mononucleosis caused by Epstein Barr virus (1 patient), cat scratch disease (1 patient), BCG vaccination (1 patient), associated chronic hepatitis B infection (1 patient), and associated amoxicillin treatment (1 patient). Etiology was unknown in 15 patients. The last case of erythema nodosum associated with tuberculous infection dated back to 1991, after which the most frequent etiologic factors associated with erythema nodosum were gastrointestinal pathogens. CONCLUSIONS: According to our results, the main etiological factor currently associated with erythema nodosum is gastrointestinal infection. Consequently, stool cultures, especially when there are associated gastrointestinal symptoms, are essential.

Eritema nudoso: modificación etiológica en las dos últimas décadas / Erythema nodosum: etiological changes in the last two decades

Objetivo: Estudiar los factores etiológicos asociados a eritema nudoso, en niños hospitalizados entre enero de 1985 y diciembre de 2003. Material y métodos: Diseño retrospectivo, descriptivo, por revisión de historias clínicas con el diagnóstico de eritema nudoso (CMBD-ICD 9-MC, código 6952). Se ha estudiado (n=45) a 27 varones y 18 mujeres con edades comprendidas entre 10 meses y 14 años. Se han analizado las siguientes variables: edad, sexo, síntomas acompañantes, exámenes complementarios (hemograma, velocidad de sedimentación globular, frotis faríngeo, radiología de tórax, prueba de Mantoux, antiestreptolisina O, coprocultivo, serología) y diagnóstico final. Resultados: La infección tuberculosa fue la etiología asociada más frecuente (10 casos), seguida de Salmonella enteritidis (7 casos), estreptococo Beta-hemolítico del grupo A (3 casos), Salmonella typhimurium (2 casos), Campylobacter jejuni (2 casos), Yersinia enterocolitica (1 caso), mononucleosis infecciosa por virus de Epstein-Barr (1 caso), enfermedad por arañazo de gato (1 caso), vacunación por BCG (un caso), asociado a hepatitis B crónica (1 caso) y asociado a tratamiento con amoxicilina (1 caso). La etiología fue desconocida en 15 de los casos. El último caso de eritema nudoso asociado a infección tuberculosa data de 1991, fecha a partir de la cual los patógenos digestivos pasan a ser la causa etiológica asociada más frecuente de eritema nudoso. Conclusiones: Según nuestros resultados, la infección gastrointestinal es en la actualidad el factor etiológico predominante, lo que hace imprescindible la realización de coprocultivos, sobre todo si existe clínica digestiva asociada (AU)

Characteristics of continuous esophageal pH-metering in infants with gastroesophageal reflux and apparent life-threatening events.

Episodes of apnea during the first year of life have been classified with the term "Apparent Life-Threatening Events" (ALTE). Gastroesophageal reflux (GER) has been accepted to be one of the factors which can favor ALTE. The aim of this work is to study the continuous 24 h gastroesophageal pH-metering (fundamentally the Reflux Index [RI] and the Area Under Curve [AUC] parameters in three different periods of time: total pH-metering, pH-metering excluding the first two post-prandial hours, and pH-metering during sleep time, for 24 infants, 14 with ALTE and 10 without it). Between these two groups (with and without ALTE) there were no significant differences in the total pH-metering concerning the RI (2 +/- 1.2 vs 5.6 +/- 7.5 p > 0.05) and concerning the AUC (24.9 +/- 14.4 vs 67.4 +/- 84 p > 0.05), but in the analysis of the sleep period, the RI (p < 0.05) and the AUC (p < 0.01) both showed significant differences in the group of infants without ALTE. These results confirm that pH-metering study during sleep is the procedure of choice for recognizing infants with ALTE.