Insulin resistance in pre-school very-low-birth weight pre-term children.

AIMS: To evaluate the metabolic pattern of a group of pre-school small- (SGA) and appropriate-for-gestational age (AGA) pre-term very-low-birthweight (VLBW) (<1500 gr) Italian children and retrospectively verify if the growth rate in the first years of life is associated to the laboratory and anthropometric characteristics of these children. METHODS: 58 (16 SGA, 42 AGA) VLBW children, without major congenital malformations/conditions were enrolled; their anthropometric, clinical and (in 34 of them) laboratory characteristics were evaluated at pre-school age (> 2<6 years of corrected age). RESULTS: Clinical, anthropometric and laboratory characteristics at pre-school age were similar in SGA and AGA. Sixty-nine percent of SGA and 51% of AGA children showed a significant weight centile crossing (CC) at 24 months. Fasting serum glucose, insulin and insulin resistance (evaluated by the Homeostasis Model Assessment -HOMA-IR-) were higher in AGA and SGA with CC. The increment in weight standard deviation scores from birth-to-24 months was significantly associated with pre-school BMI SDS, waist, fasting insulin, and HOMA-IR values, both in unadjusted and adjusted models. In a multiple regression model, after multiple adjustments, this increment is the only significant predictor of pre-school insulin (B = 0.19; 95%CI 0.07-0.31; P = 0.006) and HOMA-IR levels (B = 0.20; 95%CI 0.08-0.32; P = 0.004) both in SGA and AGA children. CONCLUSIONS: The adverse metabolic pattern of pre-school VLBW children seems related to post-natal events (rapid weight growth) independently by their being small- or appropriate-for gestational age.

[Neonatal weight: an analysis of the distribution]. / Peso neonatale: analisi della distribuzione.

We examined birthweight distribution in relation to gestational age from 25 to 42 weeks in a series of 3.526 single newborns and in whom reliability of gestational age was rigorously controlled. To verify the distribution normality the Shapiro-Wilk and the Kolmogorov tests have been applied. Birthweight data follow a gaussian distribution for each gestational age week. Therefore in the birthweight standards estimation the parametric method can safely be applied also when the series includes pathologic and preterm newborns.

Neonatal thrombosis.

Thrombosis is a special problem of the neonatal period, particularly in premature sick neonate, where it occurs with greater frequency than at other times of childhood. The aim of this article is to review the recommendations for the diagnosis and treatment of neonatal thrombosIs.

Benign transient blueberry muffin baby.

In this case-report a case of severe fetal anemia of unknown origin is presented. Diagnosis of fetal anemia was made at 24 weeks of gestational age, when fetal ascites was identified. Doppler sonography of medium cerebral artery showed a high systolic speed velocity (ACM-PSV), of 65 cm/s (>1.55 MoM). This value predicts a severe fetal anemia. Funicolocentesis confirmed hyporegenerative anemia, low reticulocytosis and low erythroblastosis. A fetal transfusion was performed. At birth anemia was still present and the baby presented blueberry muffin and liver erythropoietic foci. The blueberry muffin morphology presents as non-blanching, blue-red macules or firm, dome-shaped papules (2-8 mm in diameter). The eruption is often generalized but favors the trunk, head, and neck. Infectious (Toxoplasmosis, Cytomegalovirus, Rubella, Herpes, Parvo, Coxackievirus, Ebstein Barr, Syphilis), hematologic (sferocytosis, alloimmunization, foeto-maternal transfusion), metabolic, neoplastic (congenital leukemia, neuroblastome, congenital rhabdomyosarcome) and systemic (histiocytosis, lupus) pathologies indicated until now as possible disease causes were excluded. In the first day of life the neonate received a RBC transfusion for anemia (Hb=5.1 g/dL; Hct 15,7% at birth), followed within 48-72 hours by rapid disappearance of the rash, that wasn't then histologically examined. During two weeks of hospitalization reticulocytes raised spontaneously from 0.8% to 3.17%. Until two years of age the auxologic and clinical course was regular and the child is now in good health conditions. Due to the absence of systematic disease and the complete regression, no exact diagnosis and prognosis could be established in this case.

[Use of recombinant human erythropoietin in newborns with very low weight: efficacy monitoring]. / Utilizzo dell'eritropoietina umana ricombinante nei neonati di peso molto basso: monitoraggio dell'efficacia.

Chronic anemia is very frequent in very low birth weight (VLBW) infants. Lowered red cells life span, hemolysis, low production of erythropoietin, phlebotomies, excessive body growth are its most important causes. A reduction of the number of transfusions to babies with chronic anemia was obtained through r-HuEpo. A serie accounting for 89 newborns < 1500 g (18 < 1000 g) with a mean weight of 1069 g (+/- 238) in whom early treatment with r-HuEpo was performed (from 9.55 +/- 3.04 day), 300 UI three times a week s.c., is presented. Therapy with r-HuEpo was carried out for 6 weeks, or until the baby weighed 1800 g. During the treatment, each baby received iron, folic acid, multivitaminic supplements. Patients were monitored with red blood cells count, comprehensive of reticolocytes, ipochromic cells (Ipo-cells), content of hemoglobin of reticolocytes (CHr), each week. Iron, ferritine and transferrine were obtained only twice a month, as they required further blood sampling. 10.1% neonates received transfusions: the percentage of transfused VLBW infants was much higher (55.5%) before than after the introduction of r-HuEpo (p = 0.0002). 33.3% extremely low birth weight (ELBW) infants required transfusions (vs 95.5% in pre r-HuEpo period) (p < 0.0001). Our results confirm the importance of Ipo-cells and CHr to monitor early alterations of iron cellular employment.

[Puntino and the injections of Popeye]. / Puntino e le punturine di Braccio di Ferro.

Subcutaneous injection of active principles must be performed through a short and thin needle and an insuline syringe (because of the few quantity of drug to administrate). In our Centre, to prevent preterm chronic anemia wc practice subcutaneous therapy with recombinant human erythropoietin. 300 UI three times a week, to all the newborns weighing < 1500 g at birth. Injections to the newborns are performed in correspondence of their gluteal and deltoid muscles, and in the outer part of their thigh. To prevent atrophy, it is important to change every time the site of Injection. For this goal, we have created the shape of a newborn, nained Puntino, and we have located 24 points on it. Each point has received a number between 0 and 23. During the treatment we have followed the guide of Puntino to locate each time the correct site of injection. Thanks to Puntino's aid, there were no cases of skin adverse reaction and atrophy, even in newborns weighing < 1000 g.

[Triploidy syndrome: a case report]. / La sindrome da triploidia. Descrizione di un caso.

Triploidy is a complete extra set of chromosomes and results in a clinically recognizable lethal syndrome with hydatiform placental changes, severe intrauterine growth deficiency, cranial bone abnormalities, eye defects, malformed ears, syndactyly, genital anomalies, congenital heart defects and brain anomalies. Less severe are instances of diploid-tetraploid mixoploidy and patients are more likely to survive. The present report is another contribution to the knowledge of human triploidy: we describe a 69,XXY triploid male occurred to our observation.

[CRIB score: mortality, morbidity, and long-term neurologic development]. / CRIB score: mortalità, morbilità e sviluppo neurologico a distanza.

The purpose of this study is to assess the possibility of predicting mortality, major pathology and long-term neurodevelopmental impairment in very low birth weight VLBW infant using Clinical Risk Index for Babies (CRIB). We studied a cohort of 251 VLBW infants, whose CRIB could be calculated, born from 1995 to 1998 in our Unit. We analyzed the mortality before discharge, the incidence of chronic lung disease (CLD) and of retinopathy of prematurity (ROP), the length of stay before discharge and the neurodevelopmental impairment at one and two years of corrected age using the Griffiths developmental scales (impairment was defined by a general quotient of 85 or below). The CRIB score was divided into three risk groups: 0-5, 6-10 and > 10. Mortality rate raises with the CRIB's increase (respectively 5.6% in the first group, 32.4% in the second and 93.8% in the third group); besides the incidence of severe ROP and of CLD, calculated in infants survived > 28 days, is higher (18.4% and 40.7% respectively) in the second group than in the first (1.9% and 7.4% respectively). In the end, the incidence of neurodevelopment impairment at one and two years of corrected age is respectively 6.8% and 6.0% for children with CRIB 0-5 and 29.4% and 21.4% for children with CRIB 6-10. CRIB score is strongly associated with mortality and there is an increasing risk for severe ROP, CLD and neurodevelopment impairment from class 0-5 to class 6-10; no statement can be made for these diseases in class > 10 because there is only one survivor in this class.

[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.

[Neonatal arteriovenous thrombosis: report of a case]. / Trombosi artero-venosa ad insorgenza prenatale: presentazione di un caso.

UNLABELLED: Limb vascular thrombosis is a severe, rare entity, often needing invasive surgery and sometimes leading to loss of function. An infant with in utero arteiro-venous thrombosis is reported. CASE REPORT: The baby, a female infant, was born at 34 weeks from a mother affected by gestational diabetes. She was referred to Neonatal Care Unit because of mild respiratory distress syndrome. She had no malformations. Spontaneous acute ischemia of right upper limb was noticed soon after admission: the limb appeared pale, cold, atonic and areflexic; no signs were noticed on it. Axillary artery and vein thromboses were soon confirmed by ultrasonography and arteriography. Intravenous administration of recombinant tissue plasminogen activator was carried on for 36 hours and followed by heparin and antithrombin III administration. Partial revascularization was obtained after a few hours: at the beginning of the treatment the limb became cyanotic, then edematous and finally the normal colour appeared everywhere but in the hand, was it became visible after a few days, when edema was reabsorbed. No recurrence of thrombosis occurred with heparin prophylaxis. Pain was treated with analgesic therapy, and motor impairment required physiotherapy. The doppler ultrasonographies which were performed subsequently confirmed a complete revascularization of axillary artery and vein. Coagulation and metabolic parameters (clotting tests, protein C, protein S, prothrombin, aminoacids) were studied but disorders predisposing to thrombosis were not found both in the patient and in her parents. CONCLUSION: Early identification of limb vascular thrombosis through external symptoms is very important, as it can avoid invasive surgical procedures.

[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.