Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome.

We describe a 10-month-old boy diagnosed with X-linked hyper-IgM syndrome (XHIM) after suffering from life-threatening acute respiratory distress syndrome (ARDS) caused by Pneumocystis carinii pneumonia (PCP), although his previous clinical history and first level laboratory tests investigating immunological function did not indicate immunodeficiency. When the patient's overall condition was good, elective bone marrow transplantation from an HLA-matched older brother was performed successfully. We describe how correct diagnosis and successful treatment were made possible thanks to the involvement of a network of specialists.

Calcium and phosphorus balance in very low birth weight babies on total parenteral nutrition.

A balance study of Ca and P has been performed in 12 Very Low Birth Wt babies receiving prolonged Total Parenteral Nutrition. The mean intake of both minerals was 54.4 mg/kg/day (range 40-70). In order to avoid the formation and precipitation of CaP crystals in the solution, fructose-1,6-diphosphate was used as a source of P. 30 balance studies were performed between the seven and 63 day of life: they were always positive with a mean retention of 47.4 mg/kg/day of Ca and 48.1 mg/kg/day of P. For both minerals, 88% of the amount infused was retained: the correlation between intake and retention was linear and statistically significative (Ca:r = 0.9, p < 0.0001; P:r = 0.68, p < 0.0001). The post-natal and post-conceptional ages of the babies had no influence on Ca and P balance. The blood levels of Ca and P were poorly correlated to both intake and excretion, and were not as indicative of the mineral balance as the retention rates calculated on the basis of the 24 h urinary excretion of the minerals. A very useful test for clinical monitoring of Ca and P balance proved to be the Ca/creatinine and P/creatinine ratios measured on simple urine samples, which were strongly correlated to 24 h excretion. All infants developed radiological signs of mild osteopenia, but there was no case of acute metabolic derangement or rickets. Our data demonstrated that even in sick VLBW infants on TPN it is possible to achieve good retention rates of Ca and P, which are not different from those observed in well VLBW babies fed a 'standard' premature formula.

Use of oral verapamil in long-term treatment of neonatal, paroxysmal supraventricular tachycardia. A pharmacokinetic study.

Efficacy and pharmacokinetics of verapamil were studied in two neonates affected by supraventricular paroxysmal tachycardia, under maintenance treatment with the drug. Verapamil proved to be fully effective in suppressing arrhythmic episodes at the daily doses of 1.5 mg/kg four times a day in case 1 and of 2 mg/kg in case 2. The results of plasma half-life of the drug, calculated in a dose interval, were 3.14 hr and 2.10 hr, respectively. In patient 2, doses less than 0.95 mg/kg four times a day did not produce detectable drug plasma levels, while a further stepwise increase of dose up to 2 mg/kg four times a day produced a steep rise in trough concentration. So, in view of this dose-concentration relationship, caution is recommended in adjusting verapamil oral dosage.

Parental visiting, communication, and participation in ethical decisions: a comparison of neonatal unit policies in Europe.

AIM: To compare neonatal intensive care unit policies towards parents' visiting, information, and participation in ethical decisions across eight European countries. METHODS: One hundred and twenty three units, selected by random or exhaustive sampling, were recruited, with an overall response rate of 87%. RESULTS: Proportions of units allowing unrestricted parental visiting ranged from 11% in Spain to 100% in Great Britain, Luxembourg and Sweden, and those explicitly involving parents in decisions from 19% in Italy to 89% in Great Britain. Policies concerning information also varied. CONCLUSIONS: These variations cannot be explained by differences in unit characteristics, such as level, size, and availability of resources. As the importance of parental participation in the care of their babies is increasingly being recognised, these findings have implications for neonatal intensive care organisation and policy.

Area variations in birthweight- and cause of death--specific neonatal mortality rates in Italy.

The neonatal mortality rate in Italy is intermediate between the United States and the Northern European countries, but important regional differences exist within the country. On the basis of national data recorded by the Italian National Statistical Institute, birthweight- and cause of death-specific neonatal mortality rates were calculated for the whole country and for Northern, Central, and Southern Italy. The incidence of very low birthweight (500 to 1499 gm) and moderately low birthweight (1500 to 2499 gm) infants is similar in the three areas, whereas the risk of dying in the first month of life is highest in Southern and lowest in Northern Italy. Respiratory distress syndrome/immaturity is the main cause of neonatal death because of very high percent and component rates among very low birthweight infants and (to a lesser extent) among moderately low birthweight infants. Congenital disorders, which mainly affect normal weight newborns, are the second cause of neonatal death. Infants born in Southern Italy run a significantly higher risk of dying in the neonatal period than infants born in Northern Italy in almost all birthweight/cause of death subgroups, with the largest differences for moderately low birthweight infants. A similar but smaller difference is seen when infants born in Central Italy are compared with their Northern counterparts.

Serum Insulin-like growth factor-I (IGF-I) and IGF binding protein-3 (IGFBP-3) in growing preterm infants on enteral nutrition.

We analyzed the range of serum concentrations of insulin-like growth factor-I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3) and their inter-relationships with age and some parameters of nutritional and hormonal status in 46 growing preterm infants on enteral nutrition. 72 nutritional balances were performed, with a cross-sectional study design, at a mean age of 35.3 +/- 17.2 days, equivalent to a mean corrected age (gestational + postnatal age) of 36 +/- 2.3 weeks. Serum concentrations of IGF-I (mean 64 +/- 36 ng/ml) and IGFBP-3 (mean 1.15 +/- 0.53 mg/l) correlated significantly with each other (r = 0.46) and both correlated with body weight (r = 0.43 and 0.34), body length (r = 0.44 and 0.36) and serum concentrations of prealbumin, apolipoprotein A and cholesterol. IGF-I also correlated with urinary excretion of C-peptide (r = 0.32). There was a weak correlation between IGFBP-3 and postnatal age (r = 0.36) but no correlation between IGF-I and IGFBP-3 and correlated age or urinary excretion of growth hormone. In growing preterm infants, at least until 40 weeks of corrected age, serum concentrations of IGF-I and IGFBP-3 seem to be related principally to body weight, body length and nutritional factors, but not to growth hormone.

Growth hormone does not prevent catabolic side effects of dexamethasone in extremely low birth weight preterm infants with bronchopulmonary dysplasia--a pilot study.

Recombinant human growth hormone (rhGH) may reduce the catabolic side effects of steroid therapies on children and adults, but this has never been studied in preterm infants. We performed a pilot study on 5 extremely low birth weight preterm infants (gestational age 27 +/- 3 wks, birth weight 824 +/- 160 g) still on mechanical ventilation for bronchopulmonary dysplasia at the postnatal age of 35 +/- 9 days. All were treated for 7 days with dexamethasone (0.5 mg/kg/d i.v.) and subcutaneous rhGH at different doses: 0.1 (n = 1), 0.2 (n = 2) or 0.3 (n = 2) IU/kg/day. Nutrition was kept stable. After 7 days all subjects improved their respiratory condition but body weight remained the same and urinary urea nitrogen and C-peptide were significantly higher (p < 0.001). rhGH intake strongly related to urinary excretion of urea nitrogen (r = 0.78) and C-peptide (r = 0.88). Dexamethasone improves the pulmonary function of very preterm infants with bronchopulmonary dysplasia but induces growth arrest and catabolism which are not prevented, and may be worsened, by rhGH.

Italian Multicenter Study on Very Low Birth Weight Babies.

The Italian Multicenter Study on Very Low Birth Weight babies (IMS-VLBW) is the first collaborative investigation performed in Italy on the health status of newborns weighing less than 1500 g at birth. Eight Neonatal Intensive Care Units (NICUs) participated in the study: Cagliari, Napoli, Padova, Palermo, Roma, Sassari, Trieste, Udine. Data were analyzed in the Laboratorio di Epidemiologia e Biostatistica of the Istituto Superiore di Sanità. The objectives of the study were established in the following: a) to collect accurate descriptive data on neonatal morbidity, mortality and long term outcome of VLBW babies admitted to NICUs; b) to analyze the risk factors of unfavourable outcome (death or handicap) and to analyze, with respect to outcome, the relationships between risk factors, neonatal diseases and therapeutical procedures; c) to test the feasibility of a multicenter follow-up programme based on the use in all participating Centers of the same diagnostic criteria (the results of follow-up will be presented in a forthcoming paper). In the years 1987 and 1988, 634 newborns weighing 500-1499 g at birth were enrolled in the study. In-hospital mortality for the whole group was 33.1% (65.1% in the 500-999 g birth weight class and 19.2% in the 1000-1499 g class). Mortality was not different for inborn vs outborn babies. A high incidence of unfavourable perinatal conditions was observed in these babies, namely birth asphyxia, sub-optimal care during transport, poor clinical conditions on arrival to the NICU. Neonatal diseases, like respiratory distress syndrome and peri-intra ventricular hemorrhage were also frequent and severe. A logistic regression analysis of pre-admission risk factors of in-hospital death identified eight statistically significant variables: birth weight; gestational age; sex; antenatal steroid stimulation of lung maturity; first minute Apgar score; absence of spontaneous respiration, body temperature and pH on arrival to the NICU. Using the equation derived from the logistic regression analysis a theoretical mortality rate, predicted on the basis of the local incidence of pre-admission risk factors, was calculated for each Center. In no case the predicted mortality was statistically different from the observed one, suggesting that in our study differences in observed mortality rates from one Center to another are largely influenced by pre-admission risk factors.

Crying of a newborn child: alarm signal or protocommunication?

The purpose of the study was to explore whether the new-born cry is a simple alarm signal or differentiated cries with different meanings. 12 digital audio taped recordings of 6 full-term healthy babies were analysed. Cries of 6 newborns in this preliminary study were recorded in a pain condition after a prick for the hematic check-up the third day after delivery and then while crying spontaneously in the cradle. The sounds were sampled at 44100 Hz with a 16-bit resolution and converted to the .wav format. All the analyses were performed with a software written in the MAT-LAB environment. The most important result was that these new-born children modulated the supralaryngeal tract considerably more in cries following the painful stimulus than in "spontaneous" ones, as would be expected by the hypothesis of crying as "protolanguage."

[Metabolic, hormonal and nutritional effects of long-term theophylline therapy in preterm infants: a case-control study]. / Effetti metabolici, ormonali e nutrizionali della terapia prolungata con teofillina nei nati pretermine: uno studio caso-controllo.

Theophylline is widely used in preterm newborns for the prevention of idiopathic apnoeas, but few controlled studies have evaluated its effects on the nutritional and hormonal status of the infant. For this reason we have studied the effect of long term theophylline administration on 16 laboratory parameters concerning the metabolism of proteins, glucose, lipids, hormones and the glomerular function (blood: hemoglobin, glucose, albumin, prealbumin, urea nitrogen, creatinine, cholesterol, triglycerides, apolipoproteins A-I and B-100, IGF-I, IGFBP-3; urine: urea nitrogen, creatinine, C-peptide, GH). A case-control study was performed on 18 healthy preterm infants who were receiving oral theophylline for the prevention of idiopathic apnoeas. The mean duration of therapy at the moment of the balance study was 31 days (SD 12, range 12-51), the mean daily dose was 4.2 mg/kg (SD 1.0), the plasma range of theophylline concentration was 5 to 15 mg/l. As controls, 18 healthy preterm infants of comparable post-conceptional age, body weight and calories/protein intake at the moment of the study, were selected if they had been never treated with theophylline. No statistically significant differences were found between the two groups for the growth velocity or any of the parameters studied. The only notable exception was hemoglobin, which was significantly lower in theophylline treated infants (mean values 10.5 vs 12.7 g/dl, p 0.005 at t test). In synthesis, long term theophylline treatment in preterm infants seems to be safe from the point of view of growth, glucose, protein and lipid metabolism, hormones and glomerular function, but further studies are needed on the effects of theophylline on neonatal erythropoiesis.

[The success of maternal feeding with very low birth weight premature infants, singletons and twins: a 10-year experience]. / Successo dell'allattamento materno nei pretermine di peso molto basso singoli e gemelli: un'esperienza di 10 anni.

UNLABELLED: There are very few reports about the feasibility of maternal milk feeding in very low birthweight preterm infants (VLBW), especially in twins. Therefore we conducted a cohort retrospective study to evaluate the feeding patterns of the 226 VLBW discharged from our neonatal intensive care unit from 1987 to 1996. Their gestational age was 30 +/- 2.6 weeks, birthweight 1166 +/- 224 g and they were hospitalized for 67 +/- 37 days (means +/- 1 SD). Of the 226 VLBW 49% were males, 39% had birthweight below 10 degrees centile for gestational age and 56% were born to non-residents in our area. There were 181 single births and 45 (20%) multiple births, of which 16 from pregnancies with 3 or more fetuses. Of the total cases 22% were discharged feeding maternal milk (MM) exclusively and 21% on mixed-feeding, maternal + formula milk (FM). Percentages were respectively 23% and 18% for single newborns, 11% and 29% for twins. Singletons and twins were discharged on FM with comparable percentages (59 and 60%). With passing years we have noticed a significant increase (chi square for linear trend < 0.01) for maternal milk feeding. In the last 2 years 49% of singletons and 38% of twins were discharged on MM, 14% and 24% on MM + FM, and only 37% and 38% on FM only. Between singletons and twins there were no statistically significant differences as far as feeding at discharge is concerned. CONCLUSIONS: most mothers, if correctly informed and encouraged, are able to breast-feed, exclusively or partially, their VLBW offspring, including twins, in the first months of life.

Serum immunoglobulin and complement levels in prematures with parenteral feeding--preliminary results.

Immunoglobulins IgA, IgG and IgM and complement factors C3 and C4 have been measured in a population of premature infants to evaluate their degree of immunological maturity. All the infants were receiving complete parenteral nutrition. In parallel, the same parameters were measured in twenty two full term, healthy neonates. To explore maturation and liver function, the authors used other proteins as nutritional markers. Differences in the immunoglobulins, but not in the complement fractions were seen between the two groups. Two applications are suggested: incidence of infections and post partum maturation.

[Therapy of neonatal infection caused by group B beta-hemolytic Streptococcus]. / La terapia dell'infezione neonatale da streptococco beta-emolitico di gruppo B.

Expectant therapy for early Group B Streptococcus onset septicemia must provide coverage against other microorganism, such as L. Monocytogenes, H. Influenzae and S. Pneumoniae. It is possible to administer a combination of antimicrobial agents with activity against all or the most likely pathogens. Thus initial expectant therapy includes a broad spectrum semisynthetic penicillin (e.g. ampicillin) and an aminoglycoside (e.g. netilmicin). Vancomicin, teicoplanin and cefotaxime may also be used. Supportive therapy consists on temperature control, i.v. administration of fluids, acid-base balance and electrolytes monitoring, seizures control and ventilation. IV immunoglobulins, granulocyte and serum transfusion are also used. The G-Colony Stimulating Factor (G-CSF, filgastrim) usage is also reported.

Peritoneal dialysis in a 6-weeks old preterm infant with severe theophylline intoxication.

A case of severe, acute accidental theophylline intoxication in a 6-week old preterm infant treated with peritoneal dialysis is reported. Theophylline concentrations in plasma, urine and in the peritoneal lavage fluid were measured during all the procedure. With dialysis theophylline half-life was reduced to 14.8 hours, despite a plasmatic peak level of 133 micrograms/ml, and a significative amount of the drug was removed from the body, leading to a rapid and complete recovery of the child. In our experience peritoneal dialysis can be regarded as a first line emergency procedure in very sick infants with severe theophylline intoxication when more sophisticated methods are not available.

Proportionality of small for gestational age babies as a predictor of neonatal mortality and morbidity.

Neonatal mortality and morbidity of 2609 babies who weighed less than the fifth centile for gestational age were studied in order to evaluate the relationship between the type of intrauterine growth retardation and the short-term prognosis after birth. Of these babies, 1175 had both a birthweight and head circumference below the fifth centile ('proportionately small'); the others, whose body weight was below but head circumference above the fifth centile, were defined as 'disproportionately small'. The former group showed a consistently higher risk of death during the neonatal period. Morbidity defined by birth asphyxia, respiratory distress and neonatal infections was higher in those proportionately small babies who were delivered at term. The picture reversed for hyperbilirubinaemia, which was more frequent among disproportionately small babies. Proportionality, defined on the basis of the correspondence between birthweight and head circumference centiles, appears to be a simple and non-invasive clinical method to identify babies who are at higher risk of adverse outcome.

The importance of hematocrit in the interpretation of coagulation tests in the full-term newborn infant.

BACKGROUND: Hematocrit (HCT) is significantly higher in newborns than in adults, but this fact is not usually considered when performing coagulation tests in newborns. We studied 71 healthy full-term newborns and compared them to 100 healthy adults to test the hypothesis that correcting the anticoagulant-to-blood ratio for neonatal HCT would reduce the differences among the two populations. METHODS: PT, PTT, fibrinogen, platelets and factors II, VII, IX, X, V, VIII were measured in 71 healthy full-term newborns and 100 healthy adults. An anticoagulant-blood ratio corrected for HCT was used. In 16 newborns, a non corrected value was also used and results were compared with the corrected ratio. RESULTS: A significant difference was observed between newborns and adults in all tests with the exceptions of fibrinogen and factor V. In the 16 newborns from whom blood was collected without correcting in the anticoagulant, a significant difference was also found in all parameters but fibrinogen. A weak correlation linked the different variables. CONCLUSIONS: After correction for HCT, neonatal PT and factors V, VII, VIII and IX were much closer to adult values; neonatal PTT and factors II and X were still definitely lower.

The EURONIC Project: a European concerted action on information to parents and ethical decision-making in neonatal intensive care.

The paper presents the background, objectives and methods of a European concerted action project aimed at exploring the transmission of information to parents and the ethical decision-making process in neonatal intensive care from the perspective of health personnel, and in relation to the legal, cultural, social and ethical backgrounds of the various European countries. Eight countries are taking part in the project (France, Germany, Italy, Luxembourg, Spain, Sweden, The Netherlands and the United Kingdom), which is about to be extended also to Central and Eastern Europe (Estonia, Lithuania and Hungary). In each of them, the medical and nursing personnel of a number of randomly selected units will be interviewed through an anonymous, self-administered questionnaire. Information on the organisation and policies of the Units and on the national legislation will also be collected. The key features of the study lie in the multidisciplinary and international approach, the random selection of the sample as a guarantee of representativeness and lack of selection bias, the focus on the staff practices as well as on their attitudes and opinions.

t(9/22) with centric fission and NOR translocation leading to a case of pure 9p trisomy in the offspring.

A case of trisomy 9p originating from t(9/22) mat is reported. The rearrangement is characterized by centric fission of chromosome 9 and by translocation of NOR from chromosome 22 to 9q. The hypothesis of centric fission is discussed on the basis of various banding patterns. The case also reveals unusual knee dislocation.