A. García-Alix

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

The 22q11.2 deletion syndrome is commonly diagnosed using fluorescence in situ hybridization (FISH) with commercial probes. The chromosomal breakpoints and deletion size are subsequently characterized by short tandem repeat (STR) segregation tests or by further FISH probes. Recently, a multiplex ligation‐dependent probe amplification (MLPA) single tube assay was developed to detect deletions of the 22q11.2 region and other chromosomal regions associated with DiGeorge/velocardiofacial syndrome. We have compared the results of these three techniques in a group of 30 patients affected with 22q11.2 deletion syndrome. MLPA correctly called all patients who had been previously diagnosed by FISH. The MLPA results were concordant in all patients with the STR analysis in respect to deletion size. Furthermore, this novel technique resolved seven cases that were undetermined by STR analysis. These results confirm the efficiency of MLPA as a rapid, reliable, economical, high‐throughput method for the diagnosis of 22q11.2 deletion syndrome.

Intussusception in a preterm neonate; a very rare, major intestinal problem--systematic review of cases.

Abstract Intussusception is an extremely rare disorder in preterm infants and it is often misdiagnosed as necrotizing enterocolitis. We report a case of intussusception in a 30-day-old preterm infant of 26 weeks of gestational age and a birthweight of 610 g who was diagnosed via abdominal ultra sonography. A systematic review of the literature was performed and reports on 23 previous cases were found. The presence of recognizable causes of intussusception in preterms, such as Meckels diverticulum, bowel polypus, etc. was very infrequent. Comorbidity before and after intussusception is heterogeneous and related to prematurity. The intussusception is predominantly located in the small bowel (91,6%)–ileal or jejunal. The condition is misdiagnosed as NEC and managed conservatively until clinical deterioration occurs. A definitive diagnosis is thus established during abdominal surgery, which is usually delayed an average of 9.5 days from the onset of symptoms. Our case illustrates the capability of abdominal ultrasonography to establish early diagnosis of intussusception in the premature newborn.

Incidencia y prevalencia de la encefalopatía hipoxico-isquémica en la primera década del siglo xxi

AIM To examine the incidence and the prevalence of neonatal hypoxic-ischemic encephalopathy (HIE) in a tertiary Spanish center over a 9-year period, before the implementation of a hypothermia program. METHODS All infants > or =34 weeks gestation, born between 2000 and 2008 with evidence of perinatal asphyxia and neonatal encephalopathy were identified. HIE was classified as mild, moderate or severe. Joinpoint regression model was used to identify changes in the trends of HIE incidences. RESULTS A total of 90,963 live infants were born in La Paz Hospital between 2000 and 2008, and 23.3% of them (21.228) were admitted to the Neonatal Unit. In addition, 200 infants were referred from other centers. A total of 110 infants had HIE, of which 90% were inborn. The overall incidence of HIE was 1.088 per 1,000 live births, and the incidence of clinically significant HIE (moderate and severe grades) was 0.49 per 1,000 live births. The incidence of HIE showed a linear downward trend throughout the study period (slope=-5.37; P<0.05). Fifty-two neonates had moderate or severe HIE, this represents a prevalence of 2.42 per 1,000 infants admitted to the Neonatal Unit and means that 5-6 infants a year would have been candidates for therapeutic hypothermia. CONCLUSIONS Neonatal HIE, and in particular significant HIE, is an infrequent condition. The low prevalence of HIE requires that these infants are referred to regional centers with sufficient experience in the use of therapeutic hypothermia, and in the management of all the medical problems associated with HIE.

Impacto de la reanimación cardiopulmonar avanzada en recién nacidos pretérmino de extremado bajo peso

Objetivos Examinar si los recien nacidos de extremado bajo peso (RNEBP) que reciben reanimacion cardiopulmonar avanzada (RCPA) en la sala de partos presentan peor supervivencia y mayor morbilidad neurologica y global a corto plazo que aquellos que no la recibieron. Metodos En una cohorte retrospectiva de 150 RNEBP, nacidos en nuestro hospital entre los anos 2000 y 2004, se comparo mortalidad y morbilidad global y neurologica a corto plazo entre aquellos que precisaron RCPA y los que no. Se excluyeron los nacidos con malformaciones y aquellos con limitacion del esfuerzo terapeutico en la sala de partos. Resultados Incluimos 150 ninos, edad gestacional 23-27 semanas (25,6 ± 1,2), peso 425-995 g (745,2 ± 132). Recibieron RCPA en la sala de partos 32 (21,4%). Las caracteristicas perinatales fueron similares, excepto pH y puntuacion de Apgar inferiores, y puntuaciones mayores en la escala de Score for Neonatal Acute Physiology Perinatal Extension (SNAPPE) en los ninos con RCPA. La supervivencia al alta fue similar (62,5% frente a 76,3 % en aquellos sin RCPA). Los pacientes con RCPA necesitaron mas surfactante, oxigeno y presion media en la via aerea. Neumotorax y coagulopatia fueron mas frecuentes en los ninos con RCPA (p Conclusion La RCPA en RNEBP no parece implicar un aumento de la mortalidad neonatal ni de la morbilidad significativa no neurologica. Aunque la prevalencia individual de problemas neurologicos fue similar entre ambos grupos, la RCPA conllevo un claro aumento de la morbilidad global neurologica, incrementando tres veces el riesgo de lesion del SNC.

Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.

Screening for 22q11.2 deletions has not an easy approach due to the wide variability of their associated phenotype. Many clinical features overlap with those of other known syndromes and reported loci. Patients referred to exclude a 22q11.2 deletion are usually tested with a locus‐specific FISH probe, with 10% positive cases depending on the selection criteria, but patients testing negative for FISH at 22q11.2 may have other chromosomal aberrations in routine cytogenetic analysis. We tested 819 patients suspected of having a 22q11.2 deletion. Eighty‐eight patients (10.7%) were positive for 22q11.2 deletion, whereas 30 patients (3.7%) showed other chromosomal abnormalities involving deletions and duplications, derivative chromosomes, marker chromosomes, apparently balanced and unbalanced translocations and sex chromosome aneuploidies. Of these alterations, 28 did not involve region 22q11 and most had not been associated with 22q11.2 deletion phenotype before. We discuss the similarity of DiGeorge/velocardiofacial syndrome with other known clinical entities and suggest correlations between the new loci and the observed clinical features. The frequency of unrelated chromosomal anomalies reported in this study and in other previous reports highlights the importance of conventional cytogenetic analysis as an initial genome‐wide screening tool in all referred patients, and provides useful data to optimize diagnostic and screening protocols according to the most frequent chromosomal findings.

Guía clínica para el seguimiento de pacientes con síndrome de Beckwith-Wiedemann☆

Beckwith-Wiedemann syndrome (BWS) is characterized by congenital overgrowth, macroglossia and omphalocele or umbilical hernia. Children with BWS may also have all or some of the following features: asymmetry (hemihypertrophy) of the limbs, torso or face, hypoglycemia, organomegaly, ear pits or creases, and embryonal tumors. The frequency of BWS is approximately 1:14,000 births. We present a guide for the management of children with BWS aimed at helping pediatricians and general practitioners or specialists in the clinical follow-up of these patients. This guide has been structured according to different age groups and is based on published evidence.

Guia clinica de diagnostico y tratamiento urgente de hiperamonemia neonatal

Symptomatic hyperammonaemia in newborn is a medical emergency that should be recognised in its early stages, specifically diagnosed and aggressively treated to improve the immediate and long-term prognosis of these children. The paediatrician and the neonatal doctor should have a diagnosis-therapy scheme for its urgent management.

Neuroprotección mediante hipotermia moderada en el recién nacido con encefalopatía hipóxico-isquémica

En la mayoria de los paises desarrollados el tratamiento con la hipotermia se ha convertido en un pilar fundamental para la neuroproteccion del recien nacido con encefalopatia hipoxico-isquemica (EHI). En la unidad de cuidados intensivos neonatales de la universidad de Duke, la hipotermia moderada se aplica desde el 2005. El tratamiento con hipotermia es muy limitado en otros paises porque en adicion a un equipamiento especializado, requiere de manejo detallado de las disfunciones multiorganicas, documentacion meticulosa de la informacion clinica con cuidados y control del paciente en forma protocolizada. Como punto de partida, y para facilitar la introduccion de la hipotermia en las unidades de cuidados intensivos neonatales en Uruguay, se presenta la evolucion de cinco pacientes internados en la unidad de cuidados intensivos del centro hospitalario de Duke (Carolina del Norte, EE.UU.), evaluando la respuesta al tratamiento con hipotermia moderada y su evolucion clinica.