Spontaneous thrombosis of the abdominal aorta in two neonates.

Although relatively rare, thromboembolic events are a major complication of invasive procedures, mainly vascular catheterization, required for the survival of neonates admitted to the neonatal intensive care unit. Sometimes symptoms may be ambiguous and the diagnosis may not be immediate. The clinical relevance of polymorphism of methilene tetrahydrofolate reductase (MTHFR) gene heterozigosity and of omocystein level in the genesis of these thromboembolic events are poorly understood. We report two cases of thrombosis of the abdominal aorta, mimicking aortic coarctation, in two neonates, successfully treated at diagnosis with 170 UI/Kg of low molecular weight heparin (LMWH) twice daily, without side effects. Screening for prothrombotic defects revealed the heterozygosity for MTHFR C677T in both neonates and low omocystein level in one of them. We suggest that in newborns vascular thrombosis should be considered in the differential diagnosis of acute disorders of blood circulation at birth and familial thrombophilia should be investigated. LMWH therapy with a dose of 170 UI/Kg twice daily usually allows vascular recanalization, without side effects.

Sleeping position, oxygenation and lung function in prematurely born infants studied post term.

OBJECTIVE: To determine the effect of sleeping position on the lung function of prematurely born infants when post term, whether any effect was similar to that before discharge from the neonatal unit, and if it differed according to bronchopulmonary (BPD) status. DESIGN: Prospective study. SETTING: Tertiary neonatal unit. PATIENTS: Twenty infants, median gestational age 30 weeks (range 25-32); 10 had BPD. INTERVENTIONS: Before neonatal unit discharge (median age 36 weeks postmenstrual age (PMA)) and when post term, infants were studied prone and supine, each position maintained for 3 h. MAIN OUTCOME MEASURES: Oxygen saturation was monitored continuously and, at the end of each 3 h period, functional residual capacity (FRC) and compliance (CRS) and resistance (RRS) of the respiratory system were measured. RESULTS: At a median of 36 weeks PMA and 6 weeks later (post term), respectively, oxygen saturation (98% vs 96%, p = 0.001; 98% vs 97%, p = 0.011), FRC (26 vs 24 ml/kg, p<0.0001; 35 vs 31 ml/kg, p = 0.001) and CRS (3.0 vs 2.4 ml/cm H(2)O, p = 0.034; 3.7 vs 2.5 ml/cm H(2)O, p = 0.015) were higher in the prone than the supine position. In the prone position, both BPD and non-BPD infants had significantly greater FRCs on both occasions and oxygen saturation at 36 weeks PMA, but oxygen saturation was significantly better post term only in non-BPD infants. Twelve infants had superior oxygen saturation and 17 superior FRCs in the prone compared with the supine position at both 36 weeks PMA and post term. CONCLUSIONS: These results suggest that lung function impairment does not explain why prematurely born infants are at increased risk of sudden infant death syndrome in the prone compared with the supine position.

Saturation of the 5q31-q33 candidate region for coeliac disease.

The first genome wide screening performed on Italian affected sib-pair families (Greco et al. 1998) gave evidence for linkage with coeliac disease in the 5q region. This finding was replicated in a second independent dataset (Greco et al. 2001). Overall, pooling both samples, the highest MLS value (2.92) was found for the most centromeric marker tested, D5S640. In the present study, the 5q31-q33 region was saturated with 12 new markers around D5S640, in order to verify whether there would be a shift of the MLS position. This study allowed us to support our previous finding of linkage for the region 5q31-q33, with the most significant MLS value at D5S2014, very close to the marker D5S640. No evidence for interaction between this risk factor and the one in the HLA region was found. Furthermore, many different groups have independently obtained analogous results for this region, confirming the presence of a susceptibility locus in the region 5q31-q33. This region contains several interesting candidate genes for coeliac disease.