The hairy elbows syndrome: clinical and neuroradiological findings.

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome.

Clinical approach to the analysis of causes of death in the first two years of life of very-low-birthweight infants in a multicentre setting.

Mortality in the first 2 years of 634 very-low-birthweight infants admitted to eight neonatal intensive care units in Italy, and the factors associated with the net probability of death from each cause, were studied by means of the Cox proportional hazard model. A clinical classification of the causes of death was used. Overall mortality was 33.7% (intercentre range 12.6-52.9%). The highest cause-specific mortality rates were observed for respiratory problems, intra-ventricular haemorrhage (IVH) and infections (14.5%, 6.3% and 5.7% respectively). The leading causes of death were respiratory problems and IVH in the first week of life, infections from the second week up to the end of the first month, and bronchopulmonary dysplasia (BPD) afterwards. Birthweight < 1000 g, gestational age < 30 weeks, absence of spontaneous respiratory activity, unknown body temperature and pH < 7.20 at admission were associated with death from respiratory problems and IVH. Male sex, birthweight < 1000 g and unknown body temperature at admission were associated with death from BPD. Mortality from infections was higher in one centre; no other differences emerged among the eight NICUs. The classification of the causes of death employed and the use of the net probabilities of death appear as practical and useful instruments to study the relationship between specific aspects of medical care and mortality, and to investigate the reasons for differences in performance between neonatal units.

Italian multicentre study on very low-birth-weight babies. Neonatal mortality and two-year outcome.

The Italian multicentre study on very low-birth-weight babies is the first collaborative project in Italy on the health status of newborns weighing 500-1499 g at birth: 634 such babies were admitted in 1987-88 to eight Italian NICUs; 424 infants survived and were followed until two years of age, corrected for prematurity. Logistic regression analysis of pre-admission risk factors of in-hospital mortality identified eight statistically significant variables: birth weight, gestational age, sex, antepartum steroids, 1-min Apgar score and, on admission to the NICU, body temperature, pH and absence of spontaneous respiration. Using the equation derived from the logistic model, a theoretical mortality rate was calculated for each centre, predicted on the basis of the local incidence of preadmission risk factors. In no case was the predicted mortality significantly different from the observed one. At two years of age, 8 children were blind and 48 had motor disability. Of these, 46 had cerebral palsy: based on a functional evaluation score 14 had severe (degree 4), 20 intermediate (degree 3) and 12 mild cerebral palsy (degree 2). Among 25 variables entered in a logistic regression as risk factors for cerebral palsy, only periventricular leukomalacia and acidosis were significantly associated with the outcome.

[The partial parenteral nutrition of preterm infants with a body weight < 1000 g: the effects of an infusion of human albumin on plasma amino acid concentration]. / Nutrizione parenterale parziale di neonati pre-termine di peso corporeo < 1000 g: effetti della infusione di albumina umana sulla concentrazione plasmatica di aminoacidi.

This paper concerns with the changes of plasma amino acid (AA) concentrations of N. 10 ELBW infants receiving a regimen of partial parenteral nutrition including human serum albumin (HSA) as a protein supply. The plasma AA concentration has been compared with VLBW infants orally fed with human milk (HM) or human milk supplemented with human milk protein (HMP). As for the essential AA: in comparison to VLBW infants fed HM, the plasma concentration of VAL, PHE and LYS is significantly higher, that of THR, MET, LEU and HIS is similar, whereas that of ILE is significantly lower; in comparison to VLBW infants fed HMP, with the exception of PHE whose plasma concentration is higher, concentration of essential AA significantly lower; the percentage ratio between plasma concentration and intake is in the range of 1,4 to 3,3, except for LYS (= 0.83), indicating a good efficacy of the i.v. administered HSA as AA source, or a slow plasma clearance or a sustained flux of AA from body protein catabolism. Further researches are needed to investigate these aspects and the intermediate steps between i.v. infusion of HSA and the utilization of the component AA for body protein synthesis.

[Incidence and evolution of retinopathy of prematurity. A six year experience in a neonatal intensive care unit]. / Incidenza ed evoluzione della retinopatia del pre-termine. Esperienza di sei anni in un Centro di Terapia Intensiva Neonatale.

The incidence and the evolution of ROP in 324 infants with birthweight < or = 2500 g is report. The highest incidence was among the 750 and 1250 g birthweight infants. 5 infants < 750 g survived without signs of ROP. When present the ROP was within the 3rd stage and had a favourable outcome: spontaneous resolution without cicatricial lesions.

Milk protein quality in low birth weight infants: effects of protein-fortified human milk and formulas with three different whey-to-casein ratios on growth and plasma amino acid profiles.

Growth rates (weight, length, and head circumference) and selected biochemical indexes of protein metabolism (serum urea, acid-base status, and plasma amino acid concentrations) were determined in low birth weight (LBW) infants appropriate for gestational age (birth weight less than 1,650 g) fed three formulas differing only in the whey-to-casein ratios: 60/40, 50/50, and 35/65. A group of infants fed exclusively human milk protein (HMP)-fortified human milk was used as a control. All diets provided similar daily protein and energy intakes, which were 3.5 g/kg and 122 kcal/kg in the human milk-fed infants and 3.3 g/kg and 121 kcal/kg in the formula-fed infants. Neither weight gain nor rate of growth in length and head circumference differed between the feeding groups and reached intrauterine or better rates in all groups. Values for serum urea and acid-base status were normal and also did not differ among the groups. At the end of the study, plasma threonine concentrations were significantly higher in all formula-fed infants than in the infants fed human milk. The highest plasma threonine concentration was found in the infants receiving the whey-predominant formula. Plasma concentrations of valine, methionine, and phenylalanine were also significantly higher in all formula-fed groups when compared with the human milk group. Plasma total essential amino acid concentrations were also significantly higher in the formula-fed infants than in the human milk fed. The results show that protein quality does not affect growth rate or biochemical indexes of metabolic tolerance in LBW infants fed adequate protein and energy intakes.(ABSTRACT TRUNCATED AT 250 WORDS)

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.

The use of intravenous gamma-globulin for prevention of sepsis in pre-term infants. A controlled clinical trial.

This paper reports a randomized clinical trial to study the effect of an intravenous gamma-globulin preparation to prevent sepsis in pre-term newborn infants. 80 infants were enrolled: 37 of birthweight less than or equal to 1500 g and 43 of birthweight 1501-2000 g. In each group 20 infants received an intravenous preparation of gamma-globulin (0.5 g/kg/wk); the remaining 17 and 20, respectively, served as control cases. No significant differences in the occurrence of sepsis were observed between the group receiving prophylactively intravenous gamma-globulin and the control group. This is particularly evident in infants under intensive care (35% of the total population): in this group 2/3 of sepsis occurred in infants who received IgG. Among the infants with sepsis, the presence of an umbilical artery catheterization represented a significant risk-factor. The post-dose increment of serum IgG did not differ significantly in infants with and without sepsis; the post-dose serum disappearance rate in concentration appears identical in the two groups.

True pubertas praecox in a girl; onset at nineteen months.

The authors report a case of true pubertas praecox in a girl with onset at 19 months; they describe the principal histopathologic, clinical and laboratory features and discuss problems of etiopathogenesis and differential diagnosis, as well as the prognosis and treatment of this disorder.