Eduardo Talesnik G

Pruebas cutáneas de hipersensibilidad inmediata en una población pediátrica seleccionada

Background: Skin prick test (SPT) of immediate hypersensitivity is a main instrument in the diagnosis of allergy. Aim: To demonstrate the applicability of skin prick test in different age groups. Patients and Methods: We studied children and adolescents with the diagnosis of allergy in the Pediatric Respiratory Laboratory of the Catholic University of Chile, from January 2001 to March 2002. The SPT was performed using a standardized technique. The allergens were applied on the volar surface of the forearm in children older than 4 years of age and in younger children it was applied on their back. For study purposes we separated them into three age groups: GI ≤2 years and 11 months, GII from 3 to 4 years and 11 months, GIII ≥5 years. Results: We studied 408 children, aged between 8 months and 15 years. The SPT was applied to all patients with no adverse effects of any kind. There was a positive reaction in 57.7% of children. The reaction was positive in 37% in G1, 39% in GII and 65% in GIII (p <0.001). The predominant allergens for each group were dust mites (Dermatophagoides pteronissinus and farinae). Conclusions: SPT was useful when used on a selected pediatric population. The frequency of sensitization increased significantly with age. However, more than one third of children between 2 and 4 years of age tested positive to one or more allergen, demonstrating its applicability in this age group (Rev Med Chile 2005; 133: 195-201). (Key Words: Antigens, Dermatophagoides; House dust mites; Hypersensitivity; Skin tests)

Parotiditis aguda recurrente en el niño

La parotiditis aguda recurrente (PAR) es una enfermedad de la infancia, caracterizada por episodios de inflamacion parotidea asociada a sialectasia no obstructiva. El objetivo del presente trabajo es revisar nuestra experiencia en pacientes con PAR. Paciente y Metodo: Se estudiaron en forma retrospectiva las caracteristicas clinicas, estudios de laboratorio e imagenes de 16 pacientes provenientes de un policlinico de inmunologia-reumatologia infantil. Resultados: La edad de inicio fue en promedio 3 anos, 3 meses (rango: 6 meses a 8 anos), con predominio de sexo masculino (56%). El 74% de los episodios fueron unilaterales, sin diferencias de lateralidad. Los sintomas mas frecuentes fueron aumento de volumen parotideo (100%), dolor local (42%) y fiebre (35%). Los examenes de laboratorio resultaron dentro de rangos normales. En 7 pacientes se efectuo sialografia, la que demostro sialectasia punteada y globular. En 14 pacientes se efectuo ultrasonografia (US), la que demostro aumento de volumen parotideo difuso, con multiples imagenes nodulares hipoecogenicas en el interior de la glandula comprometida. Conclusiones: El cuadro clinico en la mayoria de esta serie correspondio al aumento de volumen glandular unilateral, sin diferencias significativas por sexo, y con un amplio rango de edad. Si bien el rendimiento de ambos estudios imagenologicos fue similar en la PAR, se sugiere a la US como un examen mas apropiado para su evaluacion inicial

Heterogeneidad de la presentación clínica del síndrome de microdeleción del cromosoma 22 región q11

Background: DiGeorge anomaly, velocardiofacial syndrome and conotruncal anomaly face syndrome are part of a group of congenital malformations of the chromosome 22q11 microdeletion syndrome, since they share certain phenotypic features as well as a common genetic abnormality. The malformations include mild facial dysmorphic features, conotruncal heart defects, thymic and parathyroid hypoplasia or aplasia and cleft palate. Aim: To describe the initial clinical presentation of children with clinical and molecular diagnosis of 22q11 microdeletion. Patients and methods: Ten children (seven male) with the phenotypic features of 22q11 microdeletion syndrome are reported. Microdeletion was detected in peripheral Iymphocytes by fluorescent in situ hybridisation (FISH) with the TUPLE-1 DNA probe. Results: Two children had abnormal karyotypes, one of them had a visible deletion and another child had an unbalanced translocation inherited from his mother who had a balanced translocation between chromosomes 14 and 22. Two of the 10 patients had an anterior laryngeal web, a malformation infrequently described in this syndrome. Five patients had the diagnosis of DiGeorge anomaly, had a more serious clinical presentation and a higher early mortality. Conclusions: The high frequency of the 22q11 microdeletion syndrome, estimated at 1:5.000 newborns, and its variable presentations requires a high level of awareness for its early diagnosis and appropriate management of associated complications. (Rev Med Chile 2001; 129: 515-21)

Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge

: We found 9 patients with Di-George syndrome. All had dysmorphic facies, hypocalcemia and congenital heart disease. Threepatients had hypoparathyroidism, 4 had interrupted aortic arch type B, 4 had tetralogy of Fallotand 1 had coarctation of aorta. Six patients had other malformations and associated diseases.FISH studies, performed in 8 patients, found the 22q11.2 microdeletion in all. Most patients hadlow CD3, CD4 and CD8 T cell counts, that ranged for CD3 T cells, between 256/mm3 and3,664/mm

Marcadores de alergia alimentaria en enfermedad péptica

Food allergy markers in peptic disease Background: The double-blind food challenge is the gold standard for diagnosis of food allergy, eventhough it is difficult to standardize and execute. An increase in allergy prevalence worldwide accentuates the importance of evaluating food allergy markers, in order to help the diagnosis. Objective: Elaboration of an operational definition for food hypersensitivity (FH) and evaluate the role of allergy markers, endoscopic and hystological findings, gastric mucosa cytokines and personal/family history of allergy in children. Method: Enrollment of children with suspected peptic disease referred for endoscopy. We obtained antral biopsies for hystological evaluation (eosinophil and mast cell count) and measurement of mucosal cytokines through an ELISA test. Patients were evaluated with Prick test, total serum IgE and clinical questionnaires for allergies. They were divided into two groups; children with and without food hypersensitivity. Results: 97 children were enrolled (mean: 11.7 ± 3, range 3-18). 4% of children had FH. The endoscopic findings did not correlate with the presence of FH. 74.1% of patients without FH had eosinophils in the gastric mucosa compared to groups with FH which had 100% (p < 0.05). Only IL-2 among the evaluated cytokines was found in a greater concentration in patients without FH. 33% of patients considered themselves having history of personal allergies versus 11.8% of people without FH (p < 0.05). Conclusions: 12,4% of children with digestive symptoms referred to endoscopy have FH. There are no clinical, endoscopic or hystological differences between patients with or without FH.

Enfrentamiento clínico de la osteoporosis en el niño

La osteoporosis es una enfermedad cada dia mas frecuente en el nino, debido al aumento del diagnostico y tratamiento de enfermedades cronicas, tanto geneticas como adquiridas. Se requiere un alto nivel de sospecha para un diagnostico precoz y manejo preventivo. Se revisan los conceptos actuales en el enfrentamiento clinico, interpretacion adecuada de las herramientas de laboratorio bioquimico y radiologico, y tratamientos especificos, reportando la experiencia local

Síndrome de fiebre periódica, faringitis, aftas y adenitis cervical

Fiebre periodica, estomatitis aftosa, faringitis y adenopatia cervical (Sindrome PFAPA) es una entidad cronica y esporadica caracterizada por episodios periodicos de fiebre elevada de duracion entre 3 a 6 dias y recurrencia cada 3 a 8 semanas, acompanada por estomatitis aftosa, faringitis y adenitis cervicales. Los pacientes son sanos entre los episodios. Reportamos 2 pacientes con los sintomas habituales del sindrome. La edad de comienzo de su enfermedad fue antes del ano de vida y fueron tratados previamente a su diagnostico con variados esquemas antimicrobianos sin respuesta clinica favorable. Posteriormente al diagnostico de sindrome PFAPA, un paciente fue tratado con prednisona y evoluciono con rapida resolucion de fiebre y el segundo ha recibido paracetamol e ibuprofeno con lenta mejoria de su sintomatologia. Ambos ninos evolucionaron asintomaticos entre los episodios febriles y con desarrollo normal. El conocimiento de este sindrome podria ayudar a un diagnostico precoz y a un manejo adecuado de las alternativas terapeuticas

Deficiencia de vitamina D en niños con enfermedades crónicas evaluados por osteopenia

Background: Chronic diseases in children may determine limited sun exposure, use of drugs, and other risk factors of osteopenia. Objective: to evaluate vitamin D deficiency and their risk factor, in children with chronic diseases with suspected osteopenia. Methods: We measured bone mineral density, bone remodeling markers, calcium, phosphate, parathormone, and 25 hydroxyvitamin D levels, and wrist X-ray. Results: We found 8 children of 25 with suspected osteopenia, with biochemical abnormalities suggestive of vitamin D deficiency. All children had low levels of 25 hydroxyvitamin D, 5 had reduced bone mineral density, 4 had hyperparathyroidism, 2 had hyperphosphatasemia, and 1 hypocalcemia and hypophosphatemia. None had rickets. Discussion: Osteopenia in chronic sick children is due to multiple factors; however, vitamin D deficiency is a preventable disorder. We recommend that all children with a chronic disease with risk factors for vitamin D deficiency should be monitored with 25 hydroxyvitamin D serum levels (Rev Med Chile 2002; 130: 645-650)

Cistitis crónica hemorrágica por ciclofosfamida en dermatomiositis refractaria a tratamiento esferoidal

Dermatomyositis was diagnosed at age 7 years to a fourteen year old female. The disease was unresponsive to high doses of prednisone, so she was treated with oral cyclophosphamide 0.8 mg.kg.day (25 mg.m2) but treatment was withheld after sixteen weeks because of hemorrhagic cystitis and changed to azathioprine for two years, which resulted in complete remission of dermatomyositis. Nevertheless silent microscopic hematuria persisted and chronic cystitis was demonstrated by cystoscopy and vesical biopsy at age 13 years. In this case chronic cystitis developed earlier and at lower doses of cyclophosphamide than in other previously reported cases.

Nueva nomenclatura de las enfermedades alérgicas: Su aplicación a la práctica pediátrica

Las enfermedades alergicas son un grupo heterogeneo de enfermedades asociadas clasicamente a una reaccion de hipersensibilidad tipo I, en cuya respuesta inmune, mediada por IgE, participan linfocitos CD4 polarizados a Th2, citoquinas, linfocitos B antigeno especificos, mastocitos y basofilos. Durante los ultimos anos se ha observado un aumento de la incidencia de las enfermedades alergicas en los paises occidentales. El objetivo del presente articulo es exponer la opinion de comites de expertos internacionales en el area de alergia, quienes han propuesto una nueva nomenclatura para estas enfermedades, segun la reaccion de hipersensibilidad involucre o no un mecanismo inmune, y este o no mediada por IgE