[Neonatal anthropometry and early differentiations in embryo-fetal growth]. / Dimensioni neonatali e differenziazione precoce della crescita embrio-fetale.

It is well known that the biologic variability in fetal size increases as pregnancy advances, although the embryonal and early fetal growth patterns as well as how early and how much the genetic, hormonal and environmental variables play a role in its modulation are still debated. It is accepted that growth in the first trimester of pregnancy is relatively uniform, with a minimal biologic variability; this variability may be underestimated, because the transversal studies do not permit the identification of the growth pattern. The aim of this work is to evaluate, by means of a longitudinal study, the time of embryo-fetal growth differentiation related at neonatal anthropometric measurements. We evaluated 238 neonates (123 female; 115 male) delivered at term after low risk, uncomplicated pregnancies. The subjects were divided into three tertles (low, mid and high) according to birth weight, length and head circumference. For each tertle, distance curves, velocity curves, and rate of increase were calculated by using respectively fetal abdominal circumference (for birth weight), fetal femural length (for neonatal length) and fetal head circumference (for neonatal circumference). The distance curves showed clear differences among the tertles only in the second period of pregnancy, whereas the velocity curves showed clear differences among tertles already in the first 12 weeks. The value of growth rates were similar for all the variables during the entire time considered. This study shows that the anthropometric differences between newborn subgroups exist already at the end of the first trimester of pregnancy and, in physiological conditions, until the end of pregnancy. The anthropometric differences observed early in our study, at twelve weeks of gestational age, are still present at the end of pregnancy and let us suppose a very early expression of the genetic potential for individual growth.

[Microbiological monitoring in neonatal intensive care]. / Monitoraggio microbiologico in terapia intensiva neonatale.

There is no "ideal" method of infection diseases control, but there are some different methods according to the risk degree of patient, the problems, the information accuracy and also the available resources. Some important points need to be stressed about infectious diseases control in Neonatal Intensive Care Unit:--continuous microbiological surveillance in Neonatal Intensive Care Unit is necessary, because newborns admitted are at very high risk of infection disease;--continuous microbiological data review is needed: therefore criticism and integration with other clinical and laboratory data are necessary to exclude simple colonisation;--critical analysis of data allows more rational use of antimicrobical agents to avoid the selection of multiresistant bacteric streams;--a rational analysis of laboratory data needs necessarily a strict collaboration among neonatologists, microbiologists and the Committee for infectious diseases control;--in epidemics, techniques of bacterial streams typization are needed, and methods of molecular biology (DNA and proteins analysis) are better;--this implies a collection of microbiological data, by database integrating microbiological, clinical and anamnestic data and allowing retrospective studies too.

[Steinert's myotonic dystrophy: severe neonatal form with unknown family history]. / Distrofia miotonica di Steinert: grave forma neonatale con famigliarità misconosciuta.

UNLABELLED: A child with severe generalized hypotonia and respiratory insufficiency, with an unknown positive family history for Steinert's disease, is referred. We want to point out the importance of correct anamnesis and of physical examination during pregnancy to suspect and diagnose rare and incurable fetal pathologies. CASE REPORT: The child was born after caesarean section. Polyhydramnios and decreased fetal movements were noticed during pregnancy. At birth, the baby presented asphyxia (Apgar 4/6) and respiratory insufficiency: he was then intubed. He received assisted ventilation for 37 days. At the physical examination, the child appeared hypotonic, hyporeflexic, without sucking reflex, with arthrogryposis and ligament laxity. On first day, chest X-ray showed paralysis of the right hemidiaphragm. His mother presented with hypotonia of the facial muscles, lid drop, light muscular weakness, positivity to neostigmine test: we then assumed that the baby was affected by transient neonatal myasthenia gravis and neostigmine was carried on. Anyway, the general conditions of the baby didn't improve. We were able to establish diagnosis of Steinert's disease (a form of muscular dystrophy with autosomal dominant inheritance with incomplete penetrance) after some other examinations (negativity of acetylcholine receptor antibodies, elevation of creatine kinase level, myopathic pattern on electromyography). Gene DMPK alteration was documented with a molecular genetic test.

[Neonatal pseudohypoaldosteronism: when a denied truth can delay a diagnosis]. / Pseudoipoaldosteronismo neonatale: quando una verità negata può ritardare una diagnosi.

A child with neonatal pseudohypoaldosteronism is referred. The diagnosis was delayed and complicated as her parents didn't tell us that her sister had been affected by the same illness. The child was born after premature rupture of membranes at 34 weeks. At birth, her conditions were satisfactory. The general conditions of the child gradually worsened and, though she regularly ate human pastorized bank milk, she didn't gain any weight. After 13 days she appeared dehydrated with marbled dry skin and haloed eyes, hypotonic and hyporeflexic. Her suction became more and more weaker, with frequent regurgitations and vomiting. Laboratory tests pointed out hyponatremia (110 mEq/l) and hyperkalemia (6.8 mEq/l). We were able to establish diagnosis of primary pseudohypoaldosteronism measuring plasma concentrations of aldosterone (> 5000 pg/ml), 17 hydroxyprogesterone (normal) and corticosteroids (normal). The child was then supplemented with sodium chlorure. A gradual improvement of general conditions took place. We assumed that both childrens and mother were affected by a milder form of primary pseudohypoaldosteronism, characterized by an autosomal dominant way of transmission. We found high levels of aldosterone with normal levels of blood salts also in the sister and mother patient's. After the neonatal period, pseudohypoaldosteronism can be only suspected in case of positive family history.