Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis.

We describe three cases in which we used fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) and comparative genomic hybridization (CGH) to characterize Y chromosome structural anomalies, unidentifiable by conventional G-banding. Case 1 was a 46,X,+mar karyotype; FISH analysis revealed an entire marker chromosome highlighted after hybridization with the Y chromosome painting probe. The PCR study showed the presence of Y chromosome markers AMG and SY620 and the absence of SY143, SY254 and SY147. CGH results confirmed the loss of Yq11.2-qter. These results indicated the presence of a deletion: del(Y)(q11.2). Case 2 was a 45,X [14]/46,XY[86] karyotype with a very small Y chromosome. The PCR study showed the presence of Y chromosome markers SY620 and AMG, and the absence of SY143, SY254 and SY147. CGH results showed gain of Yq11.2-pter and loss of Yq11.2-q12. These results show the presence of a Yp isodicentric: idic(Y)(q11.2). Case 3 was a 45,X,inv(9)(p11q12)[30]/46,X,idic(Y)(p11.3?),inv(9)(p11q12)[70] karyotype. The FISH signal covered all the abnormal Y chromosome using a Y chromosome paint. The PCR study showed the presence of Y chromosome markers AMG, SY620, SY143, SY254 and SY147. CGH only showed gain of Yq11.2-qter. These results support the presence of an unbalanced (Y;Y) translocation. Our results show that the combined use of molecular and classical cytogenetic methods in clinical diagnosis may allow a better delineation of the chromosome regions implicated in specific clinical disorders.

[Multicenter study of asphyxia neonatorum]. / Estudio multicéntrico sobre asfixia neonatal.

Out of 14,673 term infants born at seven neonatal centers in the Barcelona area, 215 newborns were identified as being at risk of developing hypoxic-ischemic encephalopathy. They had shown one or more of the following criteria: fetal pH less than or equal to 7.20, abnormal fetal heart rate patterns, umbilical artery pH less than or equal to 7.20, 5 minute Apgar score less than or equal to 6, or the need for immediate neonatal resuscitation. 135 items were investigated in relation to epidemiological, clinical and laboratory parameters. The incidence of HIE was 6.39% and the mortality was 0.55%. Abnormal neurologic examination was present in 43.7% of 215 term infants at risk, and in 1/10 of them the symptoms were severe. The predictive accuracy of the criteria used in the study was: the most sensitive criteria were the fetal distress and umbilical artery pH, the most specific criteria were the need for immediate neonatal resuscitation and a 5 minute Apgar score less than or equal to 6, and the most efficient criteria were the need for immediate neonatal resuscitation and fetal pH less than or equal to 7.20.

[Neonatal meningitis caused by Proteus mirabilis with cerebral abscess]. / Meningitis neonatal por proteus mirabilis con abscesificación cerebral.

A case neonatal meningitis by proteus mirabilis is presented. Echographic and CT scan studies were performed during clinical evolution, showing generalized brain abscesses appearances that needed surgical treatment. A ventriculo-peritoneal shunt was later practiced to correct hydrocephaly.

[Perinatal histories of 22 newborns with malformations of the central nervous system]. / Valoración de la historia perinatal y de la conducta obstétrica en los embarazos de neonatos con malformaciones del sistema nervioso central.

The authors reviewed the perinatal histories of 22 newborns malformations of the central nervous system, among 9,323 consecutive births in the last five years, with particular emphasis on the incidence and types of malformations, as well as the most important findings of the parents anamnesis. Prenatal ultrasonography is stressed out as an important tool in the precocious diagnosis of such a kind of malformations.

[Pulmonary edema associated with Pseudomonas neonatal sepsis (author's transl)]. / Edema pulmonar lesional en la sepsis neonatal por Pseudomonas.

Four newborn babies at term, with massive pulmonary haemorrhage associated with fulminant septicemia due to pseudomonas, are presented. The neonates died in the first day of life. The haematocrit and the proteic contents of the pulmonary effluent showed the existence of a pulmonary lesional edema. The histological findings in the four cases support this hypothesis. A revision of the etiopathogenic possibilities of the noncardiogenic pulmonary edema in the neonate is presented.

[Persistance of fetal circulation. a case associated to maternal indomethacin administration (author's transl)]. / Persistencia de la circulación fetal. A propósito de un caso asociado a tratamiento materno con indometacina.

The case of a neonate born to a mother who was treated with indomethacin in the antenatal period is presented. Newborn presented, immediately after birth, severe respiratory distress syndrome, with cyanosis that remain unmodified by oxigenotherapy and mechanical ventilation. Clinical picture and analitic and radiographic findings, suggested persistent fetal circulation syndrome. It has been recently demonstrated that indomethacin is able to affect hemodynamic changes in neonatal period avoiding arteriolar dilatation and consequently, the fall of pulmonary vascular resistences. Administration of tolazoline was followed of rapidly improvement of the patient.

Ventilator modifications for intermittent mandatory ventilation.

A Loosko MK2 ventilator has been modified to provide IMV in newborns. IMV rate can be varied from 3-60/min. The minimum inspiration period can be theoretically as low as 0.1 sec. This modification in neonatal mechanical ventilation has been shown to be economically feasible.