Publications (57)111.94 Total impact
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Article: ACTH and cortisol cord plasma concentrations in preterm and term infants.
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ABSTRACT: Objective:To measure the adrenocorticotropic hormone (ACTH) and cortisol (F) cord plasma levels in preterm and term infants in relation to their mode of delivery.Study Design:We studied 180 newborns appropriate for gestational age (GA) with birth weights between 365 and 4380 g and GAs between 21 and 41 weeks divided into three groups: born by vaginal delivery (VD), elective cesarean section (ECS) and emergency cesarean section (EMCS). ACTH and F levels were valued with enzyme-linked immunosorbent assay testing. Median concentrations were compared between groups by Student's T-test for independent and paired data. Multiple regression analysis was used to investigate the effect of GA on F and ACTH concentrations.Result:A significant positive correlation between GA and plasma concentrations of ACTH (P<0.05) was found in the whole population, but not between GA and F (P=NS). A significant positive correlation was found between GA and plasma concentrations of both ACTH (P=0.01) and F (P=0.03) in VD. In those born by ECS, we demonstrated a positive correlation not only between plasma concentrations of ACTH (P=0.0000) and F (P=0.00002), respectively, with GA, but also a correlation between ACTH and F (P=0.0004). No significant correlations were found in the EMCS group (P=NS).Conclusion:Our results suggest simultaneous pituitary-adrenal maturation, which is complete only at term. The responsiveness of preterm babies to different stressful stimulations is similar to the terms' but quantitatively lower, and the secretion of ACTH and F may not suffice in severe pathological circumstances.Journal of Perinatology advance online publication, 10 January 2013; doi:10.1038/jp.2012.165.Journal of perinatology: official journal of the California Perinatal Association 01/2013; · 1.59 Impact Factor -
Article: Increased risk of brain injury in IVF babies.
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ABSTRACT: The aim of this paper was to assess brain injury occurrence among in vitro fertilization (IVF) babies. We examined all babies born in our hospital in the triennium 2004-2006, comparing the presence of brain injuries between IVF babies and the rest of the population. In IVF group (180 babies), brain injury was present in 4 babies, while in the rest of population (n=3602) it was present in 23 babies (P=0.042, RR: 3.18). IVF babies have a higher risk of being born with a birthweight less than 2 500 grams (P<0.0001; RR: 5.133). When we considered only babies born with a birth weight less than 2 500 grams, the difference of brain injury between the two groups was not significant. In IVF babies, brain injury occurred more frequently than in the rest of population. This is probably due to a higher rate of premature births and low birth weight in IVF population. Anyway, this data should be disclosed to future parents to make an informed decision.Minerva pediatrica 12/2011; 63(6):445-8. -
Article: [Influence of prolonged treatment with octreotide on GH, IGF I, insulin, ACTH, cortisol, T3, T4 and TSH secretion in a case of congenital chylothorax].
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ABSTRACT: Congenital chylothorax is a rare condition characterized by the accumulation of lymph fluid in the pleural space that causes respiratory and circulatory dysfunctions, immune deficiencies, hypoalbuminemia, electrolyte imbalance and alterations of the coagulation. Mortality rates are elevated and can rise to 50%. Therapy consists in conservative treatment based on thoracic drainage combined with total parenteral nutrition or use of low-fat high-protein diet supplemented with medium chain triglycerides. In case of failure surgical intervention may be considered. During the last years some authors have experienced the use of octreotide with doubtful results. In no case the drug impact on insulin, GH and cortisol secretion in neonatal age has been investigated and only in one case the effect on thyroid hormones has been assessed. We report the case of a 36-week baby with congenital chylothorax treated with octreotide for 42 days. The drug was well tolerated but hormonal level measurements showed a deep depression of insulin secretion unaccompanied by alterations of glucose levels. Levels of GH and TSH showed only a transitory decrease. ACTH and cortisol remained normal. At 5 months, the measurements of hormonal levels did not show significant alterations. It is not possible to determine if such a drug played an essential role in the solution of the pleural effusion, but it is important to emphasize that a prolonged treatment with octreotide has not caused, in our case, persistent hormonal alterations.Minerva pediatrica 08/2010; 62(4):411-7. -
Article: Aminoterminal B-type natriuretic peptide (NT-proBNP) in the therapy of patent ductus arteriosus.
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ABSTRACT: NT-proBNP is a reliable index in case of cardiac diseases. To evaluate the diagnostic usefulness of NT-proBNP as index of the closure of patent ductus arteriosus (PDA) in ELBW. Considered 73 ELBW (mGA 26+3 weeks; mBW 789 g) with echocardiographical diagnosis of PDA. The closure of the duct was spontaneous in 22%, pharmacological in 49.3% and by surgical ligation in 28.7%. Plasma NT-proBNP levels were measured on day 3 in 35 preterm infants; in 20 of them concentrations of the peptide were assayed on day 3 and on closure of the duct. On day 3 the median of NT-proBNP levels was 13718 pg/ml (range 1918-70000). Peptide concentrations did not differ between pharmacological treatment and surgical ligation (respectively 13718 and 12342 pg/ml; p = 0.33). Concentrations of NT-proBNP were significantly lower on the closure of the duct (p < 0.0001) compared to concentrations on day 3 (median 12666 at day 3 versus 2443.5 pg/ml at closure), with a decrease of 80.71%. ELBW showed high variability of NT-proBNP concentrations both on day 3 and on closure of PDA. Although NT-proBNP high levels were indicative of the presence of hsPDA, due to the extreme heterogeneity of the values it was not possible to determine an absolute cut-off concentration of NT-proBNP below which closure of the duct occurred, while a decrease of NT-proBNP > or =80% was a reliable index of PDA closure.Minerva pediatrica 06/2010; 62(3 Suppl 1):67-70. -
Article: [Quantitative ultrasound for the assessment of bone in the preterm infant].
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ABSTRACT: Preterm infants are at risk of osteopathy of prematurity (OP). The present study aims to assess quantitative ultrasound as a safe and non-invasive method in evaluating bone mineral status in the critically ill preterm infant. Sixty preterm infants (27 females) have been evaluated in the Neonatal Intensive Care Unit of the University Hospital of Siena. Gestational age was between 22 and 36 weeks and birth weight ranged between 610 and 3240 g. A single operator did all the measurements on the second metacarpus by the DBM Sonic BP (IGEA). Ultrasound parameters were bone transmission time (BTT, micros) and speed of sound (SOS, m/s). BTT positively increased with birth gestational age (r=0.72, P<0.001, F-Ratio=62.4428), birth weight (r=0.7827, P<0.001, F-Ratio=91.7274) and birth length (r=0.7729, P<0.001, F-Ratio=86.0748). SOS was also related with gestational age (r=0.2937, P<0.023, F-Ratio=5.4768), birth weight (r=0.2634, P<0.042, F-Ratio=4.3250) and birth length (r=0.3252, P<0.011, F-Ratio=6.8596). Small infants for gestational age showed BTT values lower then infants with appropriate size for gestational age (P<0.03). There was no difference between male and female infants. Quantitative ultrasound is a non-invasive method, which is easy to perform in a Neonatal Intensive Unit, safe, harmless and gentle. This method detects subtle differences in bone mineral status, according to gestational age, weight and length. Quantitative ultrasound is a useful screening tool for early detection of bone status in newborns and a valid method for the longitudinal assessment of bone in growing children.Minerva pediatrica 04/2010; 62(2):125-32. -
Article: [Survival rates in a single neonatal intensive care unit (period 2002-2007). Neuro-developmental outcome and survival for infants born at 23-25 weeks of gestation].
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ABSTRACT: The aim of this study was to evaluate survival rates in a single Neonatal Intensive Care Unit (NICU) (period 2002-2007), with a special focus on the survival data and outcome at one-year of corrected age for infants born at 23-25 weeks of gestation. All infants who had evidence of heart activity at birth were actively resuscitated, regardless of birth weight or gestational age. Survival rate was calculated as a function of the following variables: birth weight and gestational category; gender in infants of birth weight < or = 1000 g ; appropriate (AGA) or small (SGA) weight for gestational age; inborn or outborn. Twenty-eight newborns (23-25 weeks of gestation) completed follow-up at one-year of corrected age. During the examined period, no infants died in the delivery room; 833 newborns were admitted to the NICU. Overall survival rates were as following: <500 g (37%), 501-750 g (59%), 751-1,000 g (82%), 1,001-1,250 g (96%), 1251-1,500 g (97%), 1,501-2,000 g (100%), 2,001-2,500 g (98%), >2,500 g (99%); 23-25 weeks of gestation (50%); 26-27 weeks (77%), 28-32 weeks (90%); males < or = 1,000 g (68%), females < or = 1,000 g (68%); AGA < or = 1,000 g (63%), SGA < or = 1,000 g (79%), AGA < or =28 weeks (63%), SGA < or = 28 weeks (67%); inborn (54%), outborn (25%). A fraction of 64% (infants of 23-25 weeks of gestation) did not show handicap at one-year of corrected age, while 25% presented severe, 7% moderate, and 4% mild handicaps. High rate of survival without handicap at one-year of corrected age at extremely low gestational age and the chance of improvements in neonatal care for newborn < or = 24 weeks, indicate the appropriateness for our strategy of resuscitating all newborns with evidence of heart activity in the delivery room.Minerva pediatrica 02/2010; 62(1):29-41. -
Article: [Insulin and glucagon plasma levels in very low birth weight preterm infants of appropriate weight for gestational age].
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ABSTRACT: Prematurity is a known risk factor for hypoglycaemia, hyperglycemia, neonatal sepsis and other common neonatal complications, possibly associated with glucoregolatory hormone (insulin and glucagon) alterations. Insulin and glucagon levels change also in relation to gender, mode of delivery and postnatal clinical severity. Because of the lack of reference range in literature, the aim of this study is to assess plasma insulin and glucagon levels in preterm appropriate for gestational age (AGA) infants of birth weight <1500 g (very low birth weight, VLBW) as a function of gestation, birth weight, gender and mode delivery. The authors examined 48 preterm AGA infants (mean birth weight 1 163+/-286 g, mean gestational age 28.2+/-2.4 weeks). The infant population was subdivided in relation to gestational age, weight, gender, mode of delivery and assisted ventilation at 5-7(th) days. Plasma glucose, insulin and glucagon levels were assessed in all newborns at birth and at 5-7(th) days of life. Data were analyzed using t-test. A negative correlation between insulin and gestational age was observed (P<0.05). At birth, no significant differences regarding plasma glucose, insulin and glucagon levels were observed as a function of the examined category variables. At the 5-7(th) days of life, insulin levels were significantly higher in newborns with gestational age =or<27 weeks (P<0.02), in the female gender (P<0.02) and in the infants born to emergency Cesarean delivery (P<0.05). These findings indicate potentially useful reference range values for plasma insulin and glucagon in the VLBW population.Minerva pediatrica 10/2009; 61(5):469-75. -
Article: Possible Testicular 3β-Hydroxysteroid Dehydrogenase Deficiency in Chryptorchid Neonates
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ABSTRACT: In order to explain the impaired neonatal secretion of testosterone (T) in cryptorchid neonates, plasma levels of luteinizing hormone (LH), follicle stimulating hormone (FSH), precursors of T, and T were measured in bilateral cryptorchid and control babies from the first to the 90th day of life. RIA of steroids was performed after plasma ether extraction and celite ethylen glycole column chromatography. In comparison to the neonatal period, plasma LH, dehydroepiandrosterone (DHA), and T were increased in both groups at the 60th day, although cryptorchids showed significantly lower T level (1018 ± 168 pg/ml) than controls (1985 ± 410 pg/ml, p < 0.001). At the same time, androstenedione (A) and 17 α-hydroxy-progesterone (17P) remained unchanged. Dihydrotestosterone (DHT) concentrations were higher in cryptorchids in the neonatal period, and increased in both groups at the second to third month of life. The T/DHT ratio was significantly higher in cryptorchids in all age groups. These data indicate that (1) neonatal T formation probably occurs through the Δ, pathway; (2) impaired T secretion in cryptorchid neonates could be due to a deficiency of 3β-hydroxysteroid dehydrogenase; and (3) cryptorchid neonates exhibit an elevated 5α-reductase activity of unknown origin.07/2009; 10(3):253-259. -
Article: Early activation of the hypothalamic-pituitary-adrenal-axis in very-low-birth-weight infants with small thymus at birth.
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ABSTRACT: An acute thymic involution in human fetuses and newborns has been described in very-low-birth-weight (VLBW) infants with histological chorioamnionitis. However, the mechanisms of thymic involution remain to be clarified. Here, we tested the hypothesis that an activation of the hypothalamic-pituitary-adrenal (HPA) axis occurs in VLBW infants with acute thymic involution at birth. A total of 180 randomly selected VLBW newborns (28.8 +/- 3.15 wk gestation; 1093 +/- 305 g) entered the study. Thymic size was measured on standard chest radiographs at birth, and expressed as the ratio between the transverse diameter of the cardiothymic image at the level of the carina (CT) and that of the thorax (T). CT/T < 0.28 was considered to indicate a small thymic size. Plasma cortisol and adrenocorticotropic hormone (ACTH) concentrations were determined on days 1 (d-1) and 7 (d-7), and at 1 month (mo-1). Results. A total of 66 (36.7%) newborns had CT/T < 0.28. Infants with small thymus had significantly increased cortisol on d-1 ( approximately 5.2-folds) [median: 18.95 (95% CI: 11.20-39.4) microg/dl vs. 3.66 (1.94-6.82) microg/dl, p < 0.0001)] and d-7( approximately 1.7-folds) [12.0 (4.39-22.97) microg/dl vs. 7.8 (3.63-12.8) microg/dl, p = 0.0384)], as compared with those with normal thymic size, together with higher adrenocorticotropic hormone (ACTH) concentrations on d-1 ( approximately 1.9-folds) [28 (15.6-61.07) pg/ml vs. 14.9 (9.0-23.42) pg/ml, p = 0.0005)], while no significant differences for cortisol at mo-1 or ACTH concentrations on d-7 and mo-1 were evidenced (p > 0.50). From a multivariate logistic regression analysis, a small thymus at birth was a significant independent predictor of plasma cortisol concentrations in the top-quartile (OR = 14.4; 95% CI: 6.079-34.11), and plasma ACTH concentrations in the top-quartile (OR = 4.40 (95% CI: 1.99-9.74) on d-1 (results adjusted for variables significant at univariate analysis). Our data indicated the presence of a previously unrecognized, early activation of the HPA axis in VLBW newborns with a small thymus at birth.Journal of Maternal-Fetal and Neonatal Medicine 05/2008; 21(4):251-4. · 1.50 Impact Factor -
Article: Is an excessive number of prenatal echographies a risk for fetal growth?
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ABSTRACT: To assess whether a very high number of prenatal ultrasonographies affects birthweight. We studied 1203 consecutive women who delivered in Siena Hospital. Exclusion criteria were the following: twin pregnancy, maternal smoke or alcohol ingestion in pregnancy, gestational diabetes, placenta or umbilical cord defects, gestational age at birth <37 weeks, and major malformations. We analysed birthweights in relation to the number of ultrasound examinations. 120 women had undergone a minimum number (three or less-base group) and 167 a maximum number (nine or more-intensive group) of fetal US scans. We compared the birthweight of the children born in these two groups and the correlation between number of US scans and birthweight in the whole population. Mean birthweights of the base and the intensive groups were 3389.5+/-434 g and 3268+/-438 g, respectively (p=0.0206). Nevertheless, the regression study did not show a significant correlation between birthweight and number of US scans. The mean age of the base group was 30.1+/-5.3 years and that of the intensive group was 32.09+/-4.99 years (p=0.0018). Eighteen women of base group underwent amniocenteses vs. 71 in the intensive group (p<0.001). In the base group 57.5% of the mothers had low school level vs. 24.4% in the intensive group (p<0.01). More studies are needed to confirm or exclude any relationship between an intensive use of prenatal ultrasounds and birthweight, and to exclude other effects of ultrasounds on children's health. Moreover, our study shows an excess of prenatal diagnostic procedures, the causes of which should be investigated.Early Human Development 09/2005; 81(8):689-93. · 2.05 Impact Factor -
Article: Ante partum bed rest and unexplained infantile crying.
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ABSTRACT: The aim of this study was to assess whether bed rest during pregnancy is a risk factor for infantile colics. In a previous paper a questionnaire was administered to 86 women (43 of whom had stayed in bed during pregnancy for a mean of 3.4+/-1.2 months, and 43 were controls) about the clinical history and the present state of their 11-15 year old babies. In the present paper we traced these women and assessed the presence/absence of unexplained infant crying (UIC, infantile colic), diagnosed by a physician in the first year of life of these children. Forty mothers answered the inquiry, and we compared their answers with 40 control mothers. Babies born after maternal bed rest during pregnancy had a higher incidence of UIC than the control group (26/40 vs 11/40; P=0.0015). No significant correlation was found between UIC and allergies or between UIC and maternal or artificial breast feeding. Our retrospective study shows a possible association between bed rest and UIC: further studies, including other important variables (stress, drugs, smoking) are needed.Minerva pediatrica 09/2005; 57(4):163-6. -
Article: Reduction of exposure of newborns and caregivers to very high electromagnetic fields produced by incubators.
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ABSTRACT: The aims of this paper is to measure whether ferromagnetic panels sufficiently reduce the high electromagnetic fields (EMF) to which newborns are exposed in incubators and to which caregivers are exposed when working near the incubators. We measured EMF at mattress level in three neonatal incubators with and without ferromagnetic panels between the electric motor and the mattress. We then measured the EMF at the level of the maximum emission point for caregivers, i.e., near the display panel. The ferromagnetic panels were (a) 5 mm thick iron, (b), (c), (d) respectively, one, two, and three sheets of 0.3 mm thick mu-metal. The weight of iron sheet was 4 g/cm2, and mu-metal 0.2 g/cm2. The use of the ferromagnetic panels significantly reduced the EMF. No significant difference in attenuation was recorded using one, two, or, three sheets of mu-metal, or a single sheet of iron. One, two, and three sheets of mu-metal reduced EMFs by 77%, 82%, and 84.3%, respectively; the reduction with iron was 80%. EMF values measured in incubators were higher than those to which the general population is exposed. The use of ferromagnetic panels significantly reduces the level of EMFs to which neonates and caregivers are exposed.Medical Physics 02/2005; 32(1):149-52. · 2.83 Impact Factor -
Article: [Vibration risk during neonatal transport].
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ABSTRACT: The aim of this paper is to assess the entity of the mechanical vibrations which newborn and medical staff are exposed to and to evaluate the possible risks connected with excessive exposure. Vibrations during a simulated emergency ambulance transport were studied. Vibration values with an accelerometer at the level of the incubator's mattress and at passengers' and pilot's seat level were measured. Mean accelerations (awz) and peak accelerations (awpeak), measured using a ponderation filter, according with ISO standard 2631, were considered. Inside the incubator an acceleration mean value of 1.33 (+/-0.13) m/s(2) and peak values of 11.8 (+/-0.1) m/s(2) were found. On passengers' seats the awz findings were 0.55 m/s(2) (+/-0.13) and 0.56 m/s(2) (+/-0.08) while awpeak respectively 4.8 m/s(2) (+/-0.1) and 10.2 m/s(2) (+/-0.1). On pilot's seat a mean acceleration of 0.48 m/s(2) (+/-0.08) and an awpeak value of 4.5 m/s(2) (+/-0.1) were found. Peak vibration values which newborns are exposed to (11.8 m/s(2)) are high, when compared with acceleration of gravity (9.8 m/s(2)); this can provoke repeated jerks. Environmental stress can easily alter the stability of an ill newborn and interfere with care manoeuvres. Decreasing vibrations in neonatal transport unit could increase the safety of newborns, reducing the risks which newborns are actually exposed to.Minerva pediatrica 05/2004; 56(2):207-12. -
Article: Newborn hearing screening by transient evoked otoacoustic emissions: analysis of response as a function of risk factors.
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ABSTRACT: Hearing loss can be considered as the most common birth defect. Early detection of hearing loss by screening at, or shortly after, birth and appropriate intervention are critical to speech, language and cognitive development. In the present study, the characteristics of Transient Evoked Otoacoustic Emissions have been evaluated as a function of known pre- and perinatal risk factors for hearing loss. All newborns were screened for hearing loss using a physiologic test of hearing function, the Transient Evoked Otoacoustic Emissions. A total of 532 consecutive newborn infants received binaural Transient Evoked Otoacoustic Emission testing (262 males, 270 females; mean gestational age 39.2 +/- 2.1 weeks, range 26-43; birth weight: 3,240 +/- 550 g, range 910-4,780). The population examined comprised 448 control infants and 84 high-risk for hearing loss infants (Joint Committee on Infant Hearing 1994 criteria). All Transient Evoked Otoacoustic Emission recordings were performed at comparable postconceptional ages. Audiological screening by Transient Evoked Otoacoustic Emission recording showed an overall 100% sensitivity, 99.02% specificity, with negative and positive predictive values of 100% and 62.5%, respectively. As compared to controls, high-risk infants showed: 1. increased rates of Fail-1 (Transient Evoked Otoacoustic Emissions absent at first examination, 21.4% vs 9.8%, p = 0.004), Fail-2 (Transient Evoked Otoacoustic Emissions absent on retesting: 8.64% vs 1.37%, p = 0.0014), false positives (Transient Evoked Otoacoustic Emissions absent/V wave present: 3.7% vs 0.46%, p = 0.029) and true positives (Transient Evoked Otoacoustic Emissions absent, V wave absent: 2.47% or 24.5 per 1,000 live births vs 0.22% or 2.2 per 1,000 live births, p = 0.013); 2. significantly reduced Transient Evoked Otoacoustic Emission intensity in the 0.7-1 kHz (right side) and 1-2 kHz (left side) frequency ranges. Multivariate logistic regression analysis showed a significant positive correlation between congenital hearing loss and the following risk factors: assisted ventilation lasting > 10 days (Odds ratio 14.8; 95% confidence interval, 4.5-48.8, p < 0.000001), severe birth asphyxia (Odds ratio 5.8; 95% confidence interval; 2.1-16.1; p = 0.0006) and administration of ototoxic drugs (Odds ratio 4.5; 95% confidence interval; 1.4-13.9; p = 0.009). Results of this study confirm the feasibility and accuracy of universal neonatal hearing screening based on recording Transient Evoked Otoacoustic Emissions. These data stress the importance of the risk factors for hearing loss, including prolonged assisted ventilation, ototoxic drugs, and severe birth asphyxia.Acta otorhinolaryngologica Italica: organo ufficiale della Società italiana di otorinolaringologia e chirurgia cervico-facciale 02/2003; 23(1):16-20. · 0.86 Impact Factor -
Article: Alone no more: pain in premature children.
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ABSTRACT: It is only recently that newborns have been recognised to feel pain. To avoid the drawbacks of common analgesics, alternative analgesic methods (e.g. sucking and/or oral sugar) have been proposed. We showed that these methods are of little effect without the relaxing, distracting, comforting presence of a person at the cribside who talks to and massages the baby. This is a further demonstration that newborns, including premature babies, look for a reassuring presence when experiencing pain. This is surprising as premature babies are relatively unreactive, often completely isolated in an incubator and considered incapable of social behavior. To the attentive observer, however, they reveal an unsuspected emotional world. Not only do they feel pain, but they are also capable of suffering, distress, anxiety and fear. This needs to be considered in neonatal analgesic treatment, even for extremely premature children. It is mandatory for caregivers to be a reassuring presence during painful procedures: premature babies are exacting patients. They not only feel pain, they even suffer; they request not only drugs, but a human presence nearby.Ethics & medicine: a Christian perspective on issues in bioethics 02/2003; 19(1):5-9. -
Article: Sensorial saturation: an effective analgesic tool for heel-prick in preterm infants: a prospective randomized trial.
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ABSTRACT: Pain is traumatic for preterm infants and can damage their CNS. We wanted to assess whether multisensorial stimulation can be analgesic and whether this effect is only due to oral glucose or sucking. We performed a randomized prospective study, using a validated acute pain rating scale to assess pain during heel-prick combined with five different procedures: (A) control, (B) 10% oral glucose plus sucking, (C) sensorial saturation (SS), (D) oral water, and (E) 10% oral glucose. SS is a multisensorial stimulation consisting of delicate tactile, vestibular, gustative, olfactory, auditory and visual stimuli. Controls did not receive any analgesia. We studied 85 heel-pricks (5 per baby) performed for routine blood samples in 17 preterm infants (28-35 weeks of gestational age). We applied in random order in each patient the five procedures described above and scored pain. SS and sucking plus oral glucose have the greater analgesic effect with respect to no intervention (p < 0.001). The effect of SS is statistically better than that of glucose plus sucking (p < 0.01). SS promotes interaction between nurse and infant and is a simple effective form of analgesia for the NICU.Biology of the Neonate 08/2001; 80(1):15-8. · 1.90 Impact Factor -
Article: Absence of the inferior labial and lingual frenula in Ehlers-Danlos syndrome.
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ABSTRACT: The diagnosis of Ehlers-Danlos syndrome is based on distinctive phenotypical characteristics such as hyperelastic skin and hypermobile joints. To date, no congenital physical markers exist for identifying patients with Ehlers-Danlos syndrome. Absence of the inferior labial (100% sensitivity; 99.4% specificity) and lingual frenulum (71.4% sensitivity; 100% specificity) was found to be associated with classical and hypermobility types of Ehlers-Danlos syndrome.The Lancet 06/2001; 357(9267):1500-2. · 38.28 Impact Factor -
Article: Infantile hypertrophic pyloric stenosis and asymptomatic joint hypermobility.
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ABSTRACT: A significant association with asymptomatic joint hypermobility was observed in 37 children with a history of infantile hypertrophic pyloric stenosis (P =.0016) and their parents (mothers, P <.0001; fathers, P <.05). The subjects with articular hypermobility showed an increased frequency of absent mandibular frenulum, thereby suggesting the presence of a previously unrecognized, systemic abnormality of the extracellular matrix.Journal of Pediatrics 05/2001; 138(4):596-8. · 4.11 Impact Factor -
Article: EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria.
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ABSTRACT: We performed serial electroencephalograms (EEG) in a newborn with methylmalonic aciduria and homocystinuria to assess the effects of hydroxycobalamin (OHcbl) therapy on the CNS. Diagnosis was made at 22 days of age: she had torpor, failure to thrive and hypotonia of the limbs, and intermittent opisthotonus. The first EEG, performed on the first day of therapy, showed abnormal and immature transients, low voltage and very long flat periods in the discontinuous part of the tracing. These features quickly improved during therapy. After 13 days of OHcbl therapy, the EEG tracing became normal for conceptional age and showed normal sleep phases with only minor anomalies; only mild hypotonia still remained and biochemical parameters normalized. The decrease in blood homocysteine (index of blood detoxification) was statistically correlated to the reduction of the length of flat periods in EEG (p < 0.01). In conclusion, changes in neonatal EEG, particularly the length of interburst periods in the intermittent part of the tracing, appeared to be a reliable index for evaluating drug effectiveness in methylmalonic aciduria and homocystinuria.Biology of the Neonate 12/2000; 78(4):327-30. · 1.90 Impact Factor -
Article: Hypoplastic or absent mandibular frenulum: a new predictive sign of infantile hypertrophic pyloric stenosis.
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ABSTRACT: Among 25 patients with hypertrophic pyloric stenosis, a hypoplastic or absent mandibular frenulum was noted in 92%, compared with 1.6% of 319 control infants (P <.001). This previously unrecognized sign may prove helpful in identifying newborns at risk of developing the disorder.Journal of Pediatrics 03/2000; 136(3):408-10. · 4.11 Impact Factor
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Institutions
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1990–2013
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Università degli Studi di Siena
Siena, Tuscany, Italy
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2010
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Azienda Ospedaliera Universitaria Senese
Siena, Tuscany, Italy
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