Publications (33)46.43 Total impact
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Article: Kangaroo mother care: four years of experience in very low birth weight and preterm infants.
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ABSTRACT: Kangaroo Mother Care (KMC) is a method of providing care for preterm infants through skin-to-skin contact with the mother and, preferably, exclusive breastfeeding. The growing interest in KMC at the Neonatology Unit of Pisa has provided the occasion for a retrospective analysis of the last four years, comparing the clinical effects of the kangaroo method vs. those obtained with conventional care (CNC) with respect to indicators of the general health of the infants (indices of growth, and duration of breastfeeding and hospitalization). A total of 213 infants, aged <37 gestational weeks and weighing ≤1500 g were enrolled for the study; these were divided into two groups for the purpose of comparison (91 in KMC vs. 71 in CNC). The indices of growth and the duration of the infants in hospital were not significantly different in the two groups. Nevertheless, it is worth noting how KMC is more efficacious in the very tiny VLBW infants, and that the means of the growth parameters in the KMC infants are greater than those referring to the CNC subjects, body temperatures taken at the beginning and end of a KMC session are higher, and that the mother-child relationship facilitates better sucking-feeding. While KMC is equivalent to CNC in terms of safety, thermal protection, morbidity and auxologic development, it appears to promote humanisation of infant care and mother-child bond more quickly.Minerva pediatrica 08/2012; 64(4):377-83. -
Chapter: Genetic Hearing Loss Associated with Craniofacial Abnormalities
03/2012; , ISBN: 978-953-51-0366-0 -
Article: Thyroid-stimulating hormone levels in the first days of life and perinatal factors associated with sub-optimal neuromotor outcome in pre-term infants.
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ABSTRACT: To identify perinatal factors associated with sub-optimal neuromotor outcome in infants without evident central nervous system lesions (intraventricular hemorrhage/ periventricular leukomalacia), with gestational age ≤30 (group I) and of 31-32 weeks (group II). A total of 102 premature infants admitted to the Neonatal Intensive Care Unit of Pisa, at 26-32 weeks of gestation, were studied. Data about perinatal factors and TSH values at 3-4 days of life were collected. The assessment of neuromotor development was performed at 18 months of corrected age, using the locomotor subscale of the Griffiths Scales of Mental Development. Risk factors supposed to be predictive of sub-optimal neuromotor outcome (odds ratio >1) were at ≤30 weeks: male sex, small for gestational age, patent duct arterious, respiratory distress syndrome, and at 31-32 weeks: Apgar at 5 min <7, respiratory distress syndrome, patent duct arterious and birth weight <1500 g. A strong correlation was also found between TSH screening values >4,3 mU/l and suboptimal neuromotor outcome in both groups. Several perinatal factors, acting on an immature and more vulnerable nervous system, such as the pre-term one, different for different gestational ages, are associated with a sub-optimal neuromotor outcome. Higher, but within the normal range, TSH values at screening seem to be a strong risk factor for neuromotor outcome in preterm infants without intraventricular hemorrhage or periventricular leukomalacia.Journal of endocrinological investigation 06/2011; 34(10):e308-13. · 1.57 Impact Factor -
Article: Neonatal outcome in newborns from mothers with endocrinopathies.
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ABSTRACT: Hypothyroidism and gestational diabetes are common endocrine disorders in pregnancy. Our aim is to evaluate the outcome of newborns from mothers with hypothyroidism and from mothers with gestational diabetes. The study analysed 216 newborns: 112 from mothers with gestational diabetes and 104 from mothers with hypothyroidism. For each case, we included as a control a newborn of same sex and gestational age from a mother without diabetes or thyreopathy. In newborns from mothers with gestational diabetes there was an increased frequency of hypoglycaemia and hypocalcaemia, of lower head circumference and of small-for-gestational age (SGA) birth or macrosomy (LGA) than controls. The newborns from mothers with hypothyroidism are more frequently SGA or LGA and they have a slightly increased risk of hypoglycaemia. Newborns from mothers with diabetes mellitus or hypothyroidism have an increased risk of being SGA or LGA, and to develop a mild transient hypoglycaemia. Newborns from mothers with diabetes mellitus have also an increased risk to develop hypocalcaemia and to have a lower head circumference than controls. Thus, to prevent SGA or LGA births, it is very important an early diagnosis and treatment, and a strict metabolic control of these conditions.Gynecological Endocrinology 04/2011; 27(4):248-50. · 1.58 Impact Factor -
Article: Increased incidence of esophageal atresia in northwest Tuscany: years 1994-2007.
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ABSTRACT: Esophageal atresia (EA) and imperforate anus are congenital disorders with an incidence that ranges between 1/4000 and 1/5000 births. The aim of this work was to assess the incidence of these malformations in northwest Tuscany and the associated anomalies in comparison with the data published by the Tuscan Congenital Diseases Registry. A retrospective study was made analyzing the cases of these malformations in the years 1994-2007 on a total of 25051 births at the Division of Neonatology of S. Chiara Hospital, Pisa. The authors found 14 cases of EA and 5 cases of imperforate anus. In these case histories of EA and imperforate anus the incidence was 1/1800 and 1/5000 respectively in comparison with the data issued by the Tuscan Congenital Diseases Registry with an incidence of 1/6644 and 1/1403 in all Tuscany. Five cases of EA (35%) and 2 cases of imperforate anus (40%) were associated with other congenital malformations. Our retrospective study shows a higher incidence of EA in northwest Tuscany than in all the rest of Tuscany unlike the incidence of imperforate anus that it is the same of the rest of Tuscany. In both cases isolated form is most frequent than syndromic one.Minerva pediatrica 04/2011; 63(2):93-8. -
Article: Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report.
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ABSTRACT: Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.Journal of perinatology: official journal of the California Perinatal Association 01/2011; 31(1):70-2. · 1.59 Impact Factor -
Article: P28.05: Prenatal sonographic features in fetuses with severe long bone shortening during the third trimester.
Ultrasound in Obstetrics and Gynecology 10/2010; 36(S1):278. · 3.01 Impact Factor -
Article: Low testosterone levels in pre-term newborns born small for gestational age.
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ABSTRACT: Previous studies showed that small for gestational age (SGA) newborns have an increased prevalence of hypospadias and other congenital defects of external genitalia. We observed that in the first days of life, SGA male pre-term newborns have reduced testosterone levels compared with adequate for gestational age pre-term newborns, independently from the presence of abnormalities of the external genitalia.Journal of endocrinological investigation 04/2010; 33(4):215-7. · 1.57 Impact Factor -
Article: Retinol-binding protein 4 in neonates born small for gestational age.
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ABSTRACT: Retinol-binding protein 4 (RBP4) is an adipocyte-derived 'signal' that may contribute to the pathogenesis of insulin resistance and Type 2 diabetes. The relationship of RBP4 with insulin resistance and metabolic risk in human beings has been the subject of several studies. Subjects born small for gestational age (SGA) are at risk of insulin resistance and Type 2 diabetes. Though RBP4 could represent an early marker of insulin resistance, to date, none have determined RBP4 in SGA children. Our aim was to measure RBP4 concentrations in cord blood of SGA newborns compared with those in children born with a birth weight appropriate for gestational age (AGA) and to determine whether serum RBP4 levels at birth correlate with insulin sensitivity markers. Sixty-four newborns, 17 born SGA (mean gestational age: 36.4+/-2.1 weeks), and 47 born AGA (mean gestational age: 37.0+/-3.6 weeks) were studied. The main outcome measures included anthropometry, lipid profile, insulin, homeostasis model assessment, quantitative insulin-sensitivity check index, adiponectin, and RBP4. RBP4 concentrations were significantly reduced in SGA newborns (p<0.002). No relationship was found between RBP4 and insulin sensitivity parameters. Stepwise regression analysis revealed that birth weight was the major predictor of RBP4 serum concentrations (p<0.001). RBP4 is reduced in SGA newborns, birth weight representing the major determinant of RBP4 concentrations, and is not related to insulin sensitivity. No significant difference in adiponectin levels and insulin sensitivity markers was found between SGA and AGA neonates.Journal of endocrinological investigation 04/2010; 33(4):218-21. · 1.57 Impact Factor -
Article: Prenatal ultrasound and magnetic resonance imaging features in a fetus with Walker-Warburg syndrome.
Ultrasound in Obstetrics and Gynecology 03/2009; 33(3):363-5. · 3.01 Impact Factor -
Article: Early diagnosis of 5alpha-reductase deficiency in newborns.
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ABSTRACT: 5Alpha-reductase-2 deficiency is a rare autosomal recessive form of 46,XY disorders of sex differentiation (DSD), caused by mutations in the steroid 5alpha-reductase type 2 gene (SRD5A2), presenting at birth with variable degrees of undervirilization. We report on three Italian newborns with 46,XY DSD in whom the evaluation of testosterone, dihydrotestosterone, testosterone/dihydrotestosterone (T/DHT) ratio and molecular analysis of the 5alpha-reductase type 2 gene was made in their first month of life. Baseline T/DHT ratio suggested 5alpha-reductase-2 deficiency; the diagnosis was confirmed by molecular genetics (homozygous mutation in exon 4 [G196S], heterozygous mutation in exon 1 and 5 [W35X/Y235F], heterozygous mutation plus polymorphism in exon 1 [G34W/A49T]). Proper investigation permitted early reassignment to male sex in two babies, assigned to female sex just after birth. In infancy, the T/DHT ratio, assessed by suitable assay methods and evaluated by age-appropriate reference values, seems to be able to select newborns affected by 5alpha-reductase-2 deficiency. Molecular analysis of the SRD5A2 gene should be warranted in newborns with abnormal ratio before sex assignment.Sexual Development 02/2007; 1(3):147-51. · 2.27 Impact Factor -
Article: [Multidisciplinary diagnostic protocol: ambiguous genitalia in neonatal age. Clinical management].
Minerva pediatrica 11/2003; 55(5 Suppl 1):11-2. -
Article: Female phenotype at birth and postnatal masculinization, during the first months of life, associated with transient 5 alpha-reductase 2 deficiency in a preterm infant. A timing defect syndrome?
Minerva pediatrica 11/2003; 55(5 Suppl 1):82. -
Article: [The neonate with ambiguous genitalia: differential diagnosis and emergency therapy in the first weeks of life].
Minerva pediatrica 11/2003; 55(5 Suppl 1):13-8. -
Article: [Differentiation and development of genitalia in the fetus and the neonate].
Minerva pediatrica 11/2003; 55(5 Suppl 1):9-10. -
Article: Incidence at birth and natural history of cryptorchidism: a study of 10,730 consecutive male infants.
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ABSTRACT: Of the 10,730 neonates born in the period 1978-1997 and examined for cryptorchidism (C) at birth, 1387 were pre-term (gestational age <37 wk), and 9343 were full-term. At birth, a total of 737 neonates (6.9%) were cryptorchid, 487 had bilateral C and 250 unilateral C. The C rate of pre-terms was 10 times higher than that of the full-terms (30.1 and 3.4%, respectively). Comparing the two studied decades, a significant decrease of C rate was found in the second decade in full-term neonates. The rates of C at birth were significantly elevated for low birth weight, babies born from mothers with an age <20 or >35 yr, newborns from mothers with A Rh positive and B Rh positive blood group. Of the 737 cryptorchid newborns at birth, 613 (83%) were re-examined after 12 months from the expected date of delivery, and those born in the period 1988-1997 were also re-evaluated at 6 months of life. Late spontaneous descent occurred in 464 cases (75.7%), while 149 (24.3%) were still cryptorchid. The incidence of C at 12 months from the expected date of delivery, after survival curve calculation, in term and pre-term infants, was 1.53 and 7.31%, respectively, in the period 1978-1987, and 1.22 and 3.13% respectively, in the 2nd decade (1988-1997). In the groups also examined at 6 months of life, spontaneous descent occurred almost completely within the first 6 months of life in term infants, but not in pre-terms. No evidence of seasonal cyclicity was found. Medical and/or surgical treatment was generally started within 2-4 yr of age earlier in the second decade of the study. In conclusion, the main risk factor for C at birth and at 12 months of life seems to be pre-term birth and low birth weight. If this is associated itself to a higher risk of infertility too, it remains to be defined.Journal of endocrinological investigation 10/2002; 25(8):709-15. · 1.57 Impact Factor -
Article: [Mayer-Rokitansky-Kuster-Hauser syndrome: a cause of primary amenorrhea in adolescents].
Minerva pediatrica 11/2001; 53(5):524-5. -
Article: Adrenarche, pubertal development, age at menarche and final height of full-term, born small for gestational age (SGA) girls.
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ABSTRACT: Children born small for gestational age (SGA) may present advanced bone maturation in childhood and reduced final height. The objectives of the study were to evaluate adrenarche, pubertal development, age at menarche and final height in full-term born-SGA girls. Twenty-four girls (12 born-SGA and 12 matched controls) were evaluated at 6-7.5 years of age for clinical signs of puberty and dehydroepiandrosterone sulfate (DHEAS) levels, as a marker of adrenarche. Thirty-eight girls (19 born-SGA and 19 matched controls) were evaluated at 17.5-18.5 years of age to assess final height, sexual maturation and age at menarche. SGA girls had a mean final height (160.1 cm vs 165.8 cm, p < 0.01) and mean weight (52.1 kg vs 56.5 kg, p < 0.05) significantly lower than controls. Controls had a mean final height significantly higher than their mean target height. Sexual maturation was at stage 5 of Tanner's staging in SGA girls and control subjects. SGA girls had a slightly anticipated puberty (9.9 vs 10.4 years for initial breast development) and a lower age at menarche (11.9 vs 12.3 years). At 6-7.5 years of age, SGA females and controls did not show any difference for clinical signs of puberty; however, DHEAS levels (0.75 + 0.18 microgram/ml vs 0.57 + 0.22 microgram/ml, p < 0.05) were significantly higher in SGA girls than in control subjects. We concluded that full-term born-SGA females have impaired final height and weight in adolescence but substantially normal sexual maturation and age at menarche. Increased DHEAS levels before puberty in born-SGA girls may predispose to increased bone maturation in childhood with a reduced final height. In our population a progressive increment in final stature is evident.Gynecological Endocrinology 04/2001; 15(2):91-7. · 1.58 Impact Factor -
Article: Hormonal treatment for unilateral inguinal testis: comparison of four different treatments.
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ABSTRACT: Hormonal treatment of cryptorchidism has been used since the 30s, but controversies persist on its efficacy. It is also unclear whether there are differences with the use of different hormonal trials. Aims: To evaluate the efficacy of four hormonal treatments on testicular descent in a homogeneous group of cryptorchid boys. 155 patients (age 10-48 months) with unilateral inguinal palpable testis were studied. Methods: The patients were subdivided into four groups according to hormonal treatment: group 1 = hCG [500 IU/week (if the chronological age was <2 years) or 1,000 IU/week (if the chronological age was >2 years) for 6 weeks]; group 2 = hCG + hMG (hCG as in group 1 + hMG 75 IU/week for 6 weeks); group 3 = GnRH (1,200 microg/daily for 28 days); group 4 = GnRH + hCG (1,200 microg/daily for 28 days + 1,500 IU/week for 3 weeks, respectively). The results were evaluated at the end of the treatment period and 6 months later to exclude temporarily positive results. At the end of the hormonal therapy, scrotal testicular descent was present in 30 of 155 boys (success rate 19.3%). Seven testes relapsed during follow-up (23.3%). The long-term success rate was 14.8% (23/155 testes). No significant differences were observed in success rates as well as in relapse rates among the four groups. Hormonal therapy induced permanent testicular descent in a minority of young cryptorchid boys with inguinal palpable testis. Similar results were obtained with four different trials.Hormone Research 01/2001; 55(5):236-9. · 2.48 Impact Factor -
Article: Symptomatic hypercalcemia in the first months of life: calcium-regulating hormones and treatment.
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ABSTRACT: Neonatal hypercalcemia is a rare condition often of unclear pathogenesis. If unrecognized and untreated it may result in central nervous system and renal damage. We studied three infants with symptomatic neonatal hypercalcemia pointing out pathogenetic and therapeutic aspects. One infant was found to have transient hyperparathyroidism with high intact parathyroid hormone (iPTH) levels. One infant had an incomplete form of Williams syndrome with hypercalcemia and an elfin facies. The pathogenesis is unclear in this case. A reduced secretion of calcitonin or an hypersensitivity to vitamin D might be the underlying defect. The third case was found to have subcutaneous fat necrosis and hypercalcemia associated with high 1,25(OH)2D levels and suppressed iPTH levels. These findings suggest an unregulated extrarenal 1,25(OH)2D production. These infants were treated with hydratation, furosemide, corticosteroids and low calcium diet. Symptomatic neonatal hypercalcemia should be treated promptly. However blood has to be taken before starting treatment to study calcium-regulating hormones and clarify pathogenesis.Journal of endocrinological investigation 06/1999; 22(5):349-53. · 1.57 Impact Factor
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1991–2011
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Università di Pisa
Pisa, Tuscany, Italy
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