Ernesto Alda

Epidemiología de la retinopatía del prematuro en servicios públicos de la Argentina durante 2008

INTRODUCTION: Increasing survival of preterm newborns and current care deficits result in high rates of retinopathy of prematurity (ROP), affecting patients with higher birth weight (BW) and gestational age (GA) than those at developed countries; unusual cases (UC) and missed opportunities (MO) are reported. OBJECTIVE: To describe epidemiology of ROP during 2008 compared with the previous year. POPULATION, MATERIAL AND METHOD: Observational, descriptive and retrospective study. POPULATION: Preterm babies with BW or = 1,500 g and/or 33-36 w who received oxygen therapy. SOURCE: 31 public services from 20/24 Provinces. VARIABLES: BW, GA, ophthalmologic screening, age at 1st control, ROP Grade, treatment requirement, place of treatment and time of complete ROP screening. RESULTS: Responses were obtained from 24/31 services from 16 Provinces (84,200 newborns) identifying 3,371 newborns at risk, 956 < 1,500 g BW. Screening was done in 90%; it was late in 6%. Neonatal discharge before complete ROP screening occurred in 93%. ROP rate was 11.93%; 26.25% in < 1,500 g BW. Treatment was required at 2.60%; of them, 7% were < 1,500 g BW; 20.3% were UC, one infant was a MO. Treatment need increased 20% at 2008 vs. 2007, without significant difference. Changes were not observed at median BW and GA and UC. Treatment in situ was 75% in 2008, similar to 2007. CONCLUSIONS: Incidence of ROP in public hospitals of Argentina is worrisome. Rates in 2008 have not improved compared with 2007, expressing that criteria for prevention are not yet consolidated. Screening and access to treatment must improve.

Tratamiento con láser por retinopatía del prematuro en 27 servicios públicos argentinos

INTRODUCTION Retinopathy of prematurity may lead to partial loss of vision and blindness; laser photocoagulation is the elective treatment, but universal access to it is not yet guaranteed in Argentina. OBJECTIVES To estimate prevalence of children requiring laser for retinopathy, their clinical and demographic characteristics, place of origin and place of treatment. POPULATION, MATERIAL AND METHOD: Observational, descriptive and retrospective study. POPULATION premature newborns who required treatment at public services during 2008. VARIABLES Birth weight and gestational age, prognosis, unusual cases and missed opportunities. SOURCE 27 public services from 18/24 provinces. RESULTS 235 patients who required treatment were recorded (Garrahan Hospital: 86; Gutiérrez Hospital: 45, and 104 from 25 other hospitals) from 77 public services and 13 private services from 22/24 provinces, where 210,720 babies born at the same period. Cases from Buenos Aires Province were referred mainly to Garrahan Hospital, all cases from Buenos Aires City and 2/3 from the rest of the country were treated in situ. Prognosis was defined as reserved at 15% and 5 missed opportunities occurred all in referred babies. Unusual cases were 27% of the total reported. CONCLUSION In this population retinopathy prevalence was 1/900 birth in 2008. The proportion of unusual cases, reserved prognosis and missed opportunities was high. A national record and improved access to treatment in situ are urgently needed.

Variación del peso durante el primer mes de vida en recién nacidos de término sanos con lactancia materna exclusiva

La variacion del peso en recien nacidos sanos resulta de interes clinico, principalmente en aquellos ninos con lactancia materna exclusiva. Objetivos: Determinar el cambio relativo del peso al nacer durante el primer mes, en recien nacidos de termino sanos, alimentados exclusivamente con pecho. Diseno. Observacional; tipo cohorte. Prospectivo. Poblacion, Material y Metodos: Recien nacidos asistidos entre septiembre de 2000 y noviembre de 2001. Criterios de elegibilidad: recien nacidos de termino sanos (> 37 semanas de gestacion). No elegibles: gemelares o con internacion en la primera semana de vida (exceptuando ictericia y deshidratacion hipertonica). Criterios de inclusion: pecho exclusivo al mes de vida; minimo 4 controles de peso. Criterios de eliminacion: ninos que completaron los controles pero en dias diferentes a los preestablecidos. Resultados: Recien nacidos: 1 669; fueron elegibles al momento del nacimiento: 1 479; cumplieron los criterios de inclusion: 810. El descenso maximo de peso se registro al 3er dia (promedio -8%), la media de recuperacion del peso de nacimiento fue al 8o dia y el promedio de incremento al mes fue de +30%. Al considerar la edad gestacional ( 39 semanas) y el peso al nacimiento ( 3 500g), no se hallaron diferencias significativas; no obstante, los mas pequenos al nacer presentaron una mayor variacion del peso al mes. Las dificultades en la alimentacion se asociaron con mayor internacion por ictericia y deshidratacion, junto a una recuperacion mas tardia del peso de nacimiento (13er dia). Los nacidos por parto vaginal presentaron un incremento de peso superior. Conclusiones: El conocimiento de los cambios relativos del peso al nacimiento permitio granear sus variaciones y evaluar las diferencias existentes entre grupos con distintas caracteristicas perinatales. Esta informacion podria ser de utilidad para ratificar conductas, principalmente en el fomento y difusion de la lactancia materna exclusiva en poblaciones similares a la de la presente investigacion.

Pesquisa audiológica y molecular para pérdida auditiva por mutación 35delG en el gen de la conexina 26 e infección congénita por citomegalovirus

Las perdidas auditivas pueden ser atribuidas a factores geneticos o ambientales. Las mutaciones en el gen de la proteina Cx26 (conexina 26) son responsables de un 30-80% de los casos de perdida auditiva profunda no sindromica. La variante 35delG es la prevalente en la poblacion caucasica. Entre los factores ambientales, el citomegalovirus (CMV) es la principal causa de infeccion congenita. Objetivos. Determinar la prevalencia de infeccion congenita por CMV y la frecuencia de la mutacion 35delG en recien nacidos. Identifcar aquellos con riesgo de perdida de audicion con el fn de realizar un seguimiento audiologico para detectar precozmente las hipoacusias. Material y metodos. Se analizaron 1020 muestras de sangre seca, en papel, de recien nacidos, por PCR convencional y en tiempo real. Se efectuaron las otoemisiones acusticas antes del alta hospitalaria a todos los ninos. El seguimiento audiologico se realizo tanto a los portadores de 35delG como a los que tuvieron infeccion congenita por CMV. Resultados. De los pacientes estudiados, 15 fueron heterocigotas para la mutacion 35delG. No se detectaron homocigotas. Seis de las muestras fueron positivas para CMV (resultados confirmados en orina); de ellos, solo un neonato fue sintomatico. A todos estos ninos se les realizaron las evaluaciones audiologicas; presentaron hipoacusia tres ninos con infeccion congenita por CMV y dos portadores de la mutacion 35delG. Conclusion. Se detecto un 1,3% de portadores de la mutacion 35delG y una frecuencia de infeccion congenita por CMV del 0,6%. El seguimiento audiologico de estas dos poblaciones permitio la deteccion de hipoacusias tardias. Introduction. Hearing loss may be attributed to genetic and environmental factors. Mutations in the gene of the CX26 protein (connexin 26), are responsible for 30-80% of all cases of non-syndromic profound hearing loss. The 35delG is the most frequent variant in the caucasian population. As to environmental factors, the cytomegalovirus (CMV) is the main cause of congenital infection. Objetives. To determine the prevalence of congenital CMV infection and the frequency of the 35delG mutation in newborns. To identify those at risk of suffering hearing loss in order to do an audiologic follow-up of detected cases. Materials y methods. One thousand and twenty samples of dry blood spots corresponding to newborns were tested using conventional and real time PCR. Audiologic screening was performed to all newborns before hospital discharge. Results. Fifteen out of 1020 subjects were heterozygous for the mutation. No homozygous patients were found. Six out of the samples tested positive for CMV (confrmed by a urine sample), out of which only one newborn was symptomatic. The auditory brainstem response was recorded in all these children. Hearing loss was found in three children with congenital CMV infection and two with 35delG mutation. Conclusion. The frecuency of 35delG mutation carriers in our population was 1.3% and the CMV congenital infection prevalence was 0.6%. Audiologic monitoring of these two populations allowed detection of hearing loss of late onset.

Audiologic and molecular screening for hearing loss by 35delG mutation in connexin 26 gene and congenital cytomegalovirus infection

INTRODUCTION Hearing loss may be attributed to genetic and environmental factors. Mutations in the gene of the CX26 protein (connexin 26), are responsible for 30-80% of all cases of non-syndromic profound hearing loss. The 35delG is the most frequent variant in the caucasian population. As to environmental factors, the cytomegalovirus (CMV) is the main cause of congenital infection. OBJECTIVES To determine the prevalence of congenital CMV infection and the frequency of the 35delG mutation in newborns. To identify those at risk of suffering hearing loss in order to do an audiologic follow-up of detected cases. MATERIALS AND METHODS One thousand and twenty samples of dry blood spots corresponding to newborns were tested using conventional and real time PCR. Audiologic screening was performed to all newborns before hospital discharge. RESULTS Fifteen out of 1020 subjects were heterozygous for the mutation. No homozygous patients were found. Six out of the samples tested positive for CMV (confirmed by a urine sample), out of which only one newborn was symptomatic. The auditory brainstem response was recorded in all these children. Hearing loss was found in three children with congenital CMV infection and two with 35delG mutation. CONCLUSION The frecuency of 35delG mutation carriers in our population was 1.3% and the CMV congenital infection prevalence was 0.6%. Audiologic monitoring of these two populations allowed detection of hearing loss of late onset.