Publications by authors named "Eloisa Tiberi"

27 Publications

  • Page 1 of 1

A novel homozygous variant in JAM3 gene causing hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC) with neonatal onset.

Neurol Sci 2021 Jul 22. Epub 2021 Jul 22.

Università Cattolica del Sacro Cuore, Rome, Italy.

Background: JAM3 gene, located on human chromosome 11q25, encodes a member of the junctional adhesion molecule (JAM) family. Mutations of this gene are associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts (HDBSCC).

Case Report: Herein, we present a newborn male with a prenatal suspicion of bilateral cataracts but without fetal ultrasound findings of cortical malformations. He was postnatally diagnosed with a clinical picture of HDBSCC and Early-onset Developmental and Epileptic Encephalopathy (DEE), associated to a homozygous variant of JAM3 gene.

Conclusion: Identification of this variant in affected individuals has implications for perinatal and postnatal management and genetic counseling. To the best of our knowledge, this is the first case reported of a child with a JAM3 variant in Italy, from a different ethnic background than the other reported children until now (Saudi Arabian, Turkish, Afghani, and Moroccan origin). JAM3 screening could be requested in prenatal diagnosis of fetal congenital cataracts and included in Next-Generation DNA Sequencing panels.
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http://dx.doi.org/10.1007/s10072-021-05480-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8295029PMC
July 2021

Strict glycaemic control in very low birthweight infants using a continuous glucose monitoring system: a randomised controlled trial.

Arch Dis Child Fetal Neonatal Ed 2021 May 26. Epub 2021 May 26.

Child Health Area, University Hospital Agostino Gemelli Department of Woman and Child Health Sciences, Rome, Lazio, Italy.

Objective: To evaluate the efficacy of a strict glycaemic control protocol using a continuous glucose monitoring (CGM) in infants at high risk of dysglycaemia with the aim of reducing the number of dysglycaemic episodes.

Design: Randomised controlled trial.

Setting: Neonatal intensive care unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Rome.

Patients: All infants <1500 g fed on parental nutrition (PN) since birth were eligible. A total of 63 infants were eligible and 48 were randomised.

Intervention: All participants wore a CGM sensor and were randomised in two arms with alarms set at different cut-off values (2.61-10 mmol/L (47-180 mg/dL) vs 3.44-7.78 mmol/L (62-140 mg/dL)), representing the operative threshold requiring modulation of glucose infusion rate according to an innovative protocol.

Main Outcome Measures: The primary outcome was the number of severe dysglycaemic episodes (<2.61 mmol/L (47 mg/dL) or >10 mmol/L (180 mg/dL)) in the intervention group versus the control group, during the monitoring time.

Results: We enrolled 47 infants, with similar characteristics between the two arms. The number of dysglycaemic episodes and of infants with at least one episode of dysglycaemia was significantly lower in the intervention group (strict group): respectively, 1 (IQR 0-2) vs 3 (IQR 1-7); (p=0.005) and 12 (52%) vs 20 (83%); p=0.047. Infants managed using the strict protocol had a higher probability of having normal glycaemic values: relative risk 2.87 (95% CI 1.1 to 7.3). They spent more time in euglycaemia: 100% (IQR 97-100) vs 98% (IQR 94-99), p=0.036. The number needed to treat to avoid dysglycaemia episodes is 3.2 (95% CI 1.8 to 16.6).

Conclusion: We provide evidence that CGM, combined with a protocol for adjusting glucose infusion, can effectively reduce the episodes of dysglycaemia and increase the percentage of time spent in euglycaemia in very low birthweight infants receiving PN in the first week of life.
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http://dx.doi.org/10.1136/archdischild-2020-320540DOI Listing
May 2021

Continuous glucose monitoring in the neonatal intensive care unit: need for practical guidelines.

Lancet Child Adolesc Health 2021 05;5(5):e15

Unità Operativa Complessa di Neonatologia, Fondazione Policlinico Universitario A Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico, Università Cattolica del Sacro Cuore, Rome 00168, Italy.

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http://dx.doi.org/10.1016/S2352-4642(21)00096-1DOI Listing
May 2021

Expanding the spectrum of congenital myopathies: prenatal onset with extreme hyperextension of the neck.

Neurol Sci 2021 Apr 26;42(4):1549-1553. Epub 2020 Nov 26.

Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.

We describe the case of a male newborn presenting with a prenatal diagnosis of persistent hyperextension of the fetal neck and severe hypotonia and respiratory insufficiency at birth. Facial weakness, increased serum creatine kinase levels, and abnormal feeding, together with other signs, such as severe contractures, also classically associated with congenital myopathies prompted to perform a muscle biopsy showing internal rods suggestive of a possible nemaline myopathy. These findings suggest that a careful neurological examination should be performed in infants with persistent hyperextension of the fetal neck to exclude weakness and a possible underlying muscle disorder.
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http://dx.doi.org/10.1007/s10072-020-04937-xDOI Listing
April 2021

Nusinersen in type 0 spinal muscular atrophy: should we treat?

Ann Clin Transl Neurol 2020 12 4;7(12):2481-2483. Epub 2020 Nov 4.

Pediatric Neurology, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS-Università Cattolica del Sacro Cuore, Rome, Italy.

A male infant affected by type 0 SMA with one copy of SMN2 received early treatment with Nusinersen at the age of 13 days. He showed mild motor improvement 2 months after treatment started but despite also showing some minimal respiratory improvement, required tracheostomy at the age of 4 months and had increasing cardiac and autonomic dysfunction leading to exitus at 5 months. Our findings, expanding the results available on Nusinersen, confirm its relative efficacy in the most severely affected infants and provide clinical evidence to be used at the time requests for treating severe infants are discussed.
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http://dx.doi.org/10.1002/acn3.51126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732235PMC
December 2020

Staphylococcal scalded-skin syndrome in preterm infants: A case report.

Australas J Dermatol 2021 Feb 13;62(1):e129-e130. Epub 2020 Jul 13.

Division of Neonatology, Department of Pediatrics, Fondazione Policlinico "A. Gemelli" IRCCS, Catholic University of the Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1111/ajd.13396DOI Listing
February 2021

Newborn with a painless lump over the clavicle.

J Paediatr Child Health 2019 Dec 2;55(12):1497-1498. Epub 2019 Jul 2.

Neonatology Unit, Department of Pediatrics, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Catholic University of the Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1111/jpc.14557DOI Listing
December 2019

Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?

Ann Pediatr Endocrinol Metab 2019 Jun 30;24(2):129-132. Epub 2019 Jun 30.

Division of Neonatology, Department of Pediatrics, Fondazione Policlinico Universitario "A. Gemelli" IRCSS - Catholic University of the Sacred Heart, Rome, Italy.

We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to biochemical investigations. The infant was treated with calcium supplementation and vitamin D analog therapy, and he remained stable and symptom-free with normal serum biochemistries during follow-up. We suggest that transient pseudohypoparathyroidism of the newborn (ntPHP) might be included among inactivating parathyroid hormone (PTH)/PTH-related protein signaling disorders as defined by the classification schema recently proposed by the European Pseudohypoparathyroidism Network. To the best of our knowledge, this is the first report in which the new classification has been applied to a case of ntPHP.
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http://dx.doi.org/10.6065/apem.2019.24.2.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603610PMC
June 2019

Extubation from high-frequency oscillatory ventilation in extremely low birth weight infants: a prospective observational study.

BMJ Paediatr Open 2018 9;2(1):e000350. Epub 2018 Nov 9.

Unità Operativa Complessa di Neonatologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Objective: To evaluate if weaning from high-frequency oscillatory ventilation (HFOV) directly to a non-invasive mode of respiratory support is feasible and results in successful extubation in extremely low birth weight (ELBW) infants.

Design: Prospective observational study.

Setting: Tertiary neonatal intensive care unit.

Patients: One hundred and eight ELBW infants of 26.2±1.4 weeks of gestational age (GA) directly extubated from HFOV.

Interventions: All infants were managed with elective HFOV and received surfactant after a recruitment HFOV manoeuvre. Extubation was attempted at mean airways pressure (MAP) ≤6 cm HO with FiO ≤0.25. After extubation, all infants were supported by nasal continuous positive airway pressure (6-8 cm HO).

Main Outcome Measures: Extubation failure (clinical deterioration requiring reintubation) was defined as shorter than 7 days.

Results: Ninety patients (83%) were successfully extubated and 18 (17%) required reintubation. No significant differences were found between the two groups in terms of birth weight, day of life and weight at the time of extubation. Multivariable analysis showed that GA (OR 1.71; 95% CI 1.04, 2.08) and higher MAP prior to surfactant (OR 1.51; 95% CI 1.06, 2.15) were associated with successful extubation.

Conclusions: In ELBW infants, direct extubation from HFOV at MAP ≤6 cm HO with FiO ≤0.25 is feasible. Our extubation success rate (83%) is higher than conventional mechanical ventilation in this very vulnerable class of infants.
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http://dx.doi.org/10.1136/bmjpo-2018-000350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6242018PMC
November 2018

Continuous glucose monitoring (CGM) in very low birth weight newborns needing parenteral nutrition: validation and glycemic percentiles.

Ital J Pediatr 2018 Aug 22;44(1):99. Epub 2018 Aug 22.

Division of Neonatology, Department of Pediatrics, University Hospital "A.Gemelli" Catholic University of the Sacred Heart, Rome, Italy.

Background: Continuous glucose monitoring using subcutaneous sensors is useful in the management of glucose control in neonatal intensive care. We evaluated feasibility and reliability of a continuous glucose monitoring system in a population of very low birth weight neonates needing parenteral nutrition. Moreover, we presented percentiles of glycemia of the studied population.

Methods: Very low birth weight neonates were enrolled within 24 h from birth. An ENLITE sensor connected to a continuous glucose monitoring system was inserted and maintained for at least 72 h. Data obtained with the continuous glucose monitoring system and with a glucometer were compared. Calibration was performed every 12 h.

Results: Twenty-three patients (9 males) were included. Median gestational age was 28 weeks (range 23-30) and median birth weight was 860 g (range 500-1092). A total of 299 paired glucose values were obtained. Modified Clarke Error Grid criteria for clinical significance were met. 74 and 33 episodes of hypoglycemia and hyperglycemia were detected, respectively. 31,329 values of glycemia were analyzed and the percentiles calculated.

Conclusions: This continuous glucose monitoring system is safe and accurate. It allows increasing the detection of hypo- and hyper-glycaemia episodes and it could be routinely used in the management of glucose infusion in very low birth weight neonates under total parenteral nutrition.
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http://dx.doi.org/10.1186/s13052-018-0542-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6106728PMC
August 2018

When arrhythmia is in the air.

J Paediatr Child Health 2018 Aug;54(8):924

Division of Neonatology, Department of Woman and Child Health, Catholic University of the Sacred Heart, Rome, Italy.

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http://dx.doi.org/10.1111/jpc.1_14101DOI Listing
August 2018

Continuous glucose monitoring in preterm infants: evaluation by a modified Clarke error grid.

Ital J Pediatr 2016 Mar 9;42:29. Epub 2016 Mar 9.

Division of Neonatology, Department of Pediatrics, UniversityHospital "A.Gemelli" CatholicUniversity of the Sacred Heart, Rome, Italy.

Background: Continuous glucose monitoring using subcutaneous sensors has been validated in adults and children with diabetes, and was found to be useful in the management of glucose control. We aimed to assess feasibility and reliability of a new continuous glucose monitoring system (CGMS) in a population of preterm neonates using a Clarke error grid (CEG) specifically modified for preterm infants.

Methods: Preterm infants were recruited within 24 h from delivery. A subcutaneous sensor connected to a CGMS was inserted and maintained for 6 days. Data collected from CGMS were compared with data obtained using a glucometer. Management of the infants followed standard protocols and was not influenced by CGMS readings.

Results: Twenty patients (9 males) were included. Median (range) gestational age was 32 weeks (27-36) and median (range) birth weight was 1350 g (860-3360). Average CGMS recording time was 137 h, for a total of 449 paired glucose levels. CEG and modified CEG criteria for clinical significance were met.

Conclusion: CGMS is a safe and clinically adequate method to estimate glucose levels in preterm infants. As the glucose level can be evaluated in real time, this CGMS could be useful to reduce the number of heel sticks, to observe glycaemic trends and to promptly detect episodes of both hypo- and hyper-glycaemia.
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http://dx.doi.org/10.1186/s13052-016-0236-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784331PMC
March 2016

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management.

Biomed Res Int 2015 16;2015:805876. Epub 2015 Sep 16.

Department of Sense Organs, Sapienza University, Viale del Policlinico 155, 00186 Rome, Italy.

Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.
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http://dx.doi.org/10.1155/2015/805876DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588028PMC
July 2016

Efficacy and Safety of Dimeticone in the Treatment of Lice Infestation through Prophylaxis of Classmates.

Iran J Public Health 2013 1;42(7):700-6. Epub 2013 Jul 1.

Dept. of Paediatrics, "A. Gemelli" University Hospital, Rome, Italy.

Background: We conducted a study to evaluate efficacy and safety of dimeticone 4%, a lotion with no conventional insecticide activity, to cure lice infection and to prevent spread of infestation/reinfestation by prophylaxis of classmates.

Methods: The study is carried out between April 2008 and June 2008 in Petranova International Institute in Rome. A total of 131 children, aged 3 to 13 years (median age: 7 years) were included in the study. All participants received treatment with dimeticone 4% that was applied both to children with the infestation, to cure it, and to all classmates, to prevent the spreading of the infestation. They have been controlled after 7 and 30 days from the application of dimeticone.

Results: At baseline we found a positivity of lice infestation in 23/131 children (17.6%), whereas 108/131 (82.4%) children were free from lice. After 7 days of treatment with dimeticone 4%, 7/23 (30.4%) positive children still had lice infestation, with a cure rate of 69.6% (16/23). At 30 days 26/131 children (19.9%) were infested: 15 children were lice free at baseline whereas 11 had lice at both evaluations; the cure rate amounted to 52.2% (12/23). The reinfestation rate (percentage of positive children that showed negativity at baseline) was 5.3% (7/131) at 7 days and 11.5% (15/131) at 30 days.

Conclusion: The lower reinfestation rate showed in our trial suggests that this approach could be effective in reducing spreading of head lice in small communities. More studies are needed to confirm our findings.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3881616PMC
January 2014

Unusual cause of neonatal respiratory distress.

Indian Pediatr 2012 Jan;49(1):69-70

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January 2012

Development and validation of serum bilirubin nomogram to predict the absence of risk for severe hyperbilirubinaemia before discharge: a prospective, multicenter study.

Ital J Pediatr 2012 Feb 1;38. Epub 2012 Feb 1.

Department of Pediatrics, Catholic University of the Sacred Heart, Rome, Rome.

Background: Early discharge of healthy late preterm and full term newborn infants has become common practice because of the current social and economic necessities. Severe jaundice, and even kernicterus, has developed in some term infants discharged early. This study was designed to elaborate a percentile-based hour specific total serum bilirubin (TSB) nomogram and to assess its ability to predict the absence of risk for subsequent non physiologic severe hyperbilirubinaemia before discharge.

Methods: A percentile-based hour-specific nomogram for TSB values was performed using TSB data of 1708 healthy full term neonates. The nomogram's predictive ability was then prospectively assessed in five different first level neonatal units, using a single TSB value determined before discharge.

Results: The 75 th percentile of hour specific TSB nomogram allows to predict newborn babies without significant hyperbilirubinemia only after the first 72 hours of life. In the first 48 hours of life the observation of false negative results did not permit a safe discharge from the hospital.

Conclusion: The hour-specific TSB nomogram is able to predict all neonates without risk of non physiologic hyperbilirubinemia only after 48 to 72 hours of life. The combination of TSB determination and risk factors for hyperbilirubinemia could facilitate a safe discharge from the hospital and a targeted intervention and follow-up.
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http://dx.doi.org/10.1186/1824-7288-38-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3298708PMC
February 2012

Validation of transcutaneous bilirubin nomogram in identifying neonates not at risk of hyperbilirubinaemia: a prospective, observational, multicenter study.

Early Hum Dev 2012 Jan 23;88(1):51-5. Epub 2011 Jul 23.

Department of Paediatrics, Division of Neonatology, Policlinico A. Gemelli, Catholic University Sacred Heart, Rome, Italy.

Background: Transcutaneous bilirubin (TcB) measurement is widely used as screening for neonatal hyperbilirubinaemia.

Aims: To prospectively validate TcB measurement using hour-specific nomogram in identifying newborn infants not at risk for severe hyperbilirubinaemia.

Study Design: prospective, observational, multicenter.

Subjects: 2167 term and late preterm infants born in 5 neonatal units in the Lazio region of Italy.

Methods: All neonates had simultaneous TcB and total serum bilirubin (TSB) measurements, when jaundice appeared and/or before hospital discharge. TcB and TSB values were plotted on a percentile-based hour-specific transcutaneous nomogram previously developed, to identify the safe percentile able to predict subsequent significant hyperbilirubinaemia defined as serum bilirubin >17 mg/dL or need for phototherapy.

Results: Fifty-five babies (2.5%) developed significant hyperbilirubinaemia. The 50th percentile of our nomogram was able to identify all babies who were at risk of significant hyperbilirubinaemia, but with a high false positive rate. Using the 75th percentile, two false negatives reduced sensitivity in the first 48 hours but we were able to detect all babies at risk after the 48th hour of age.

Conclusions: This study demonstrates that the 75th percentile of our TcB nomogram is able to exclude any subsequent severe hyperbilirubinaemia from 48 h of life ahead.
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http://dx.doi.org/10.1016/j.earlhumdev.2011.07.001DOI Listing
January 2012

Early weaning from incubator and early discharge of preterm infants: randomized clinical trial.

Pediatrics 2010 Sep 9;126(3):e651-6. Epub 2010 Aug 9.

University Hospital A. Gemelli, Catholic University of the Sacred Heart, Department of Pediatrics, Division of Neonatology, Largo Agostino Gemelli 8, 00168 Rome, Italy.

Objective: The goal was to assess the feasibility of earlier weaning from the incubator for preterm infants.

Methods: This was a prospective, randomized study with preterm infants with birth weights of <1600 g who were admitted to a neonatal subintensive ward. Findings for 47 infants who were transferred from an incubator to an open crib at >1600 g (early transition group) were compared with those for 47 infants who were transferred from an incubator to an open crib at >1800 g (standard transition [ST] group). The primary outcome of the study was length of stay. Secondary outcomes were the number of infants returned to an incubator, the growth velocity in an open crib and during the first week at home, the proportions of breastfeeding at discharge and during the first week at home, and the hospital readmission rate.

Results: The length of stay was significantly shorter in the early transition group than in the standard transition group (23.5 vs 33 days; P=.0002). No infants required transfer back to the incubator. Only 1 infant in the standard transition group was readmitted to the hospital during the first week after discharge. Growth velocities and individual amounts of breastfeeding were similar between the 2 groups.

Conclusion: In this study, weaning of moderately preterm infants from incubators to open cribs at 1600 g was safe and resulted in earlier discharge.
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http://dx.doi.org/10.1542/peds.2009-3005DOI Listing
September 2010

Reliability of two different bedside assays for C-reactive protein in newborn infants.

Clin Chem Lab Med 2009 ;47(9):1081-4

Division of Neonatology, Department of Pediatrics, Catholic University of the Sacred Heart, Rome, Italy.

Background: Bedside tests for C-reactive protein (CRP) have been studied in pediatric patients, but not in neonates.

Methods: This study compared the results of two rapid bedside tests for CRP (Quick-Read CRP, Orion Diagnostic, Espoo, Finland and NycoCard CRP-Single Test, Axis-Shield, Oslo, Norway) with those of our central laboratory method (CRP-Lab) in newborn infants. CRP concentrations were determined using 72 samples obtained from 43 infants with suspected sepsis occurring between 1 and 28 days of life.

Results: Considering positive CRP concentrations to be > or = 10 mg/L, both bedside tests had good specificity (Quick-Read 80.5%, NycoCard 83.3%) and sensitivity (Quick-Read 97.2%, NycoCard 94.4%) when compared with our CRP-Lab. The agreement of measurement with central laboratory values was high for both the bedside tests, without statistically significant differences between the methods. The Quick-Read and NycoCard methods did not show any statistically significant systematic proportional bias when compared with the central laboratory values. The accuracy of the results of both bedside tests is somewhat decreased when CRP concentrations are >100 mg/L.

Conclusions: This study shows that both the Quick-Read and the NycoCard test can be used for serial determinations of CRP concentrations in newborn infants. They require small volumes of blood and provide reliable results in < 5 min.
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http://dx.doi.org/10.1515/CCLM.2009.246DOI Listing
November 2009

Skin bilirubin measurement during phototherapy in preterm and term newborn infants.

Early Hum Dev 2009 Aug 29;85(8):537-40. Epub 2009 May 29.

Department of Pediatrics, Division of Neonatology, University Hospital A. Gemelli, Rome, Italy.

Background: The few existing studies evaluating the reliability of transcutaneous bilirubin monitoring during phototherapy gave controversial results.

Aims: To evaluate the accuracy of transcutaneous bilirubin measurement in a large population of newborn infants, during phototherapy.

Study Design And Methods: Total serum bilirubin and transcutaneous bilirubin on patched and unpatched skin areas were simultaneously measured in newborn infants undergoing phototherapy. Transcutaneous measurements were performed with a multiwavelength transcutaneous bilirubinometer (Respironics BiliCheck). The Passing-Bablok regression and the Bland-Altman plot were used to estimate the relationship between serum and transcutaneous bilirubin.

Results: We studied 364 newborn infants with a mean (SD) gestational age of 34.6 (3) weeks and a mean birth weight of 2371 (805) grams. Total serum bilirubin, patched transcutaneous bilirubin and unpatched transcutaneous bilirubin were similar before phototherapy. After 52 (33) hours of phototherapy, the difference between serum bilirubin and patched transcutaneous bilirubin was 0.2 (3.1) mg/dL (not significant) while the difference between serum bilirubin and unpatched transcutaneous bilirubin was 3.2 (3.0) mg/dL (p<0.001). Statistical analysis showed a good agreement between serum bilirubin and patched transcutaneous bilirubin, while unpatched transcutaneous bilirubin underestimates serum levels. The difference between patched and unpatched values was significantly lower in preterm than in term infants (2.8 mg/dL vs. 3.6 mg/dL; p<0.001).

Conclusion: BiliCheck can be safely used for the evaluation of bilirubin levels in newborn infants under phototherapy. Its reliability on patched skin of the forehead is high enough to consistently reduce blood draws and to ascertain when to discontinue phototherapy. Because of the individual variance, any clinical decision has to be taken on the basis of the transcutaneous bilirubin trend more than on a single value.
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http://dx.doi.org/10.1016/j.earlhumdev.2009.05.010DOI Listing
August 2009

Skin bilirubin nomogram for the first 96 h of life in a European normal healthy newborn population, obtained with multiwavelength transcutaneous bilirubinometry.

Acta Paediatr 2008 Feb;97(2):146-50

Division of Neonatology, Department of Paediatrics, University Hospital A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.

Aim: Hour-specific nomogram evaluation of serum or skin bilirubin is a suitable approach for managing neonatal hyperbilirubinemia and it is recommended by American Academy of Paediatrics. We aimed to provide data about skin bilirubin levels during the natural course of hyperbilirubinemia in European healthy neonates.

Methods: We enrolled 2198 healthy newborn infants (gestational age [GA]>or= 35 weeks), from 24 to 96 h of life and performed transcutaneous bilirubin (TcB) measurement, in order to draw the nomogram for 10th, 25th, 50th, 75th and 95th percentiles of skin bilirubin, both for term and near term babies. All measurements were performed with a multiwavelength transcutaneous bilirubinometer (Respironics BiliCheck), within 2 h of the designed time and data were analysed with linear and local smoother regression.

Results: We described the peculiar pattern of skin bilirubin increasing rate over different time periods. Bilirubin linearly increases rapidly in the first 48 h and less rapidly from 48 to 72 h, while the increment is insignificant from 72 to 96 h.

Conclusion: We provide the first data on skin bilirubin trend in a large predominantly breastfed and healthy European newborn population during the natural course of nonpathologic hyperbilirubinemia. Nomogram and increment rate of skin bilirubin are useful to identify neonates requiring closer evaluation and to plan an adequate follow-up.
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http://dx.doi.org/10.1111/j.1651-2227.2007.00622.xDOI Listing
February 2008

Bile acid-induced lung injury in newborn infants: a bronchoalveolar lavage fluid study.

Pediatrics 2008 Jan;121(1):e146-9

Division of Neonatology, Department of Pediatrics, University Hospital A. Gemelli, Catholic University of the Sacred Heart, Rome, Italy.

Objectives: Neonatal respiratory distress syndrome is associated with intrahepatic cholestasis of pregnancy, and bile acids may play a major role in neonatal bile acid pneumonia. Our aim was to demonstrate the bile acid presence in the bronchoalveolar lavage fluid of neonates affected by respiratory distress syndrome who were born from intrahepatic cholestasis of pregnancy and to investigate bile acid mechanisms of action in acute lung injury.

Methods: In this prospective study, we enrolled 10 neonates delivered from intrahepatic cholestasis of pregnancy, affected by respiratory distress syndrome requiring mechanical ventilation (intrahepatic cholestasis of pregnancy group) and 2 control groups. The first group consisted of 20 infants with respiratory distress syndrome delivered from pregnancies without any sign of intrahepatic cholestasis of pregnancy (respiratory-distress-syndrome group), and the second group included 20 neonates with no lung disease who were ventilated for extrapulmonary reasons (no-lung-disease group). We measured bile acid and pH in the bronchoalveolar lavage fluid and serum bile acid levels in the first 24 hours of life.

Results: Bile acids were measurable in the bronchoalveolar lavage fluid of all of the infants in the intrahepatic cholestasis of pregnancy group but were absent in the 2 control groups. Bronchoalveolar lavage fluid pH was not different among the 3 groups. Infants in the intrahepatic-cholestasis-of-pregnancy group had significantly higher serum bile acid levels compared with those in both of the control groups.

Conclusions: Bile acids are detectable in the bronchoalveolar lavage fluid of newborns from intrahepatic cholestasis of pregnancy affected by respiratory distress syndrome. Elevated serum bile acid levels in these infants allow us to hypothesize that bile acid reaches the lung after an uptake from the circulation. These findings strongly support a role for bile acid in causing bile acid pneumonia.
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http://dx.doi.org/10.1542/peds.2007-1220DOI Listing
January 2008

Predicting respiratory distress syndrome in neonates from mothers with intrahepatic cholestasis of pregnancy.

Early Hum Dev 2008 May 24;84(5):337-41. Epub 2007 Oct 24.

Division of Neonatology, Institute of Pediatrics, Catholic University of the Sacred Heart, Rome, Italy.

Objective: Intrahepatic cholestasis of pregnancy (ICP) has been associated with prematurity and fetal mortality. Recently, ICP has also been recognised as a risk factor for neonatal respiratory distress syndrome (RDS) in term or near-term neonates. Since fetal mortality is more frequent in pregnancies with an early ICP onset, we speculated that the time of exposure (ET) to maternal bile acids at the delivery (BAdeliv) could be involved in neonatal lung damage too. Study aim was to develop a scoring system to predict the RDS occurrence.

Design: We conducted a retrospective analysis of 77 pregnancies complicated by ICP (years 2000-2004) looking for factors associated to the neonatal RDS. We developed a risk score as follows: RDS risk score=BAdeliv x ET/gestational age and we prospectively applied it to 30 neonates from ICP pregnancies (years 2005-2006).

Results: ROC analysis indicated 9 as the score with the highest sensitivity (83.3%) and specificity (87.5%). Considering a RDS incidence of about 25% in babies coming from ICP pregnancies, the post-test probability showed a risk increased to 66.7% with a score>9 and reduced to 4.8% with a score
Conclusion: Our score is easy to apply and is based on the three most important variables involved in the RDS genesis. Score reliability is high enough to use it in clinical practice and to verify it in wider populations.
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http://dx.doi.org/10.1016/j.earlhumdev.2007.09.012DOI Listing
May 2008

Penile involvement in Henoch-Schönlein purpura with good prognosis.

Scand J Urol Nephrol 2007 ;41(6):567-9

Department of Pediatric Sciences, Università Cattolica S. Cuore, A. Gemelli Hospital, Campus Bio-Medico University, Rome, Italy.

Henoch-Schönlein purpura (HSP), the commonest vasculitis in children, occurs most frequently between the ages of 4 and 6 years. We report the case of a 3-year-old boy with an otomastoiditis who was treated with cephalosporin and corticosteroids following a typical purpuric skin rash diagnosed as HSP. The patient also developed an acute occurrence of impairment of the glans, prepuce and penis 4 days after recovery that completely disappeared after a further 2 days, with the cutaneous rash subsiding on discharge from hospital.
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http://dx.doi.org/10.1080/00365590701365487DOI Listing
May 2008

MUC5AC overexpression in tear film of neonates.

Graefes Arch Clin Exp Ophthalmol 2007 Sep 31;245(9):1377-81. Epub 2007 May 31.

Interdisciplinary Center for Biomedical Research Laboratory of Ophthalmology, Campus Bio Medico University of Rome, Rome, Italy.

Background: Full-term neonates produce tears normally, but neonatal tear film is modified to resist evaporation with a thick lipid layer that allows lower spontaneous blink rates. This adaptation presumably prevents drying of the ocular surface during long inter-blink periods. However, tear-film stability is not only based on the integrity of the lipid layer, but also reflects properties of the underlying mucus layer. Characteristics of the neonatal mucus tear-film layer have not yet been described.

Materials And Methods: Tear samples were obtained from eight full-term healthy neonates (four males, four females, mean age 1.7 +/- 0.5 days) and eight healthy adult controls (four males, four females, mean age 26.3 +/- 2.5 years). Characterization of tear samples' total proteins was obtained by spectrophotometry. Western blot for major secretory mucin MUC5AC was performed on the samples. Blink rate in the neonates and adults enrolled in the study was also observed and recorded.

Results: Using the same procedure, the amount of tears collected was significantly greater in adults than in neonates (p < .01). Western Blot performed on neonatal tear samples showed a significant 76.8% increase in the expression of major secretory mucin MUC5AC as compared to healthy adult controls (p < .001). Mean blink rate recorded in neonates was significantly lower than in adults (p < .001), with a mean 1.6 +/- 0.5 blinks per minute and a mean interblink time of 33 +/- 9 seconds.

Discussion: As far as we are aware this is the first description of the mucus tear-film layer in neonates. The greater tear-film stability in neonates has been so far attributed to a thicker lipid layer. In our study, we show that a concomitant increase in MUC5AC protein expression in tears is present and may contribute to this greater stability; therefore, both mucus and lipid layer should be considered while evaluating tear film stability in neonates.
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http://dx.doi.org/10.1007/s00417-007-0602-9DOI Listing
September 2007

Homotoxicological remedies versus desmopressin versus placebo in the treatment of enuresis: a randomised, double-blind, controlled trial.

Pediatr Nephrol 2008 Feb 20;23(2):269-74. Epub 2007 Feb 20.

Department of Paediatric Sciences, Università Cattolica S. Cuore, A. Gemelli Hospital, Largo A. Gemelli, 8, 00168, Rome, Italy.

The aim of this trial was to compare the safety and efficacy of homotoxicological remedies versus placebo and versus desmopressin (dDAVP) in the treatment of monosymptomatic nocturnal enuresis (MNE). We conducted a randomised, double-blind, double-dummy, controlled trial in which 151 children with MNE were randomly assigned to receive oral homotoxicological remedies (n = 50), dDAVP (n = 50) or placebo (n = 51). The primary outcomes were: the reduction of wet nights per week after 3 months of therapy; the evaluation of the numbers and percentages of non-responders and responders; the number of children relapsing after initial response and the number of children attaining 14 consecutive dry nights during the treatment. The secondary outcome was the detection of adverse effects. Baseline clinical characteristics were similar in the three groups of patients. After the 3 months of therapy there was a significant difference between the three groups (P < 0.001) in the mean number of wet nights per week. The daily dose of dDAVP produced a statistically significant decrease (62.9%) in wet nights compared to placebo (2.4%) (P < 0.001) and compared to homotoxicological remedies (30.0%) (P < 0.001). There was a significant decrease in wet nights among the group treated with homotoxicological medications if compared with placebo (P < 0.001). The full response achieved with homotoxicological remedies (20%) was superior if compared with placebo (0%) (P < 0.001). Homotoxicology was superior to placebo (P < 0.001) with regard to the number of children attaining 14 consecutive dry nights during treatment. Our study demonstrates that homotoxicology is safe and effective when compared with placebo, even if it is significantly less effective than dDAVP in this clinical condition.
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http://dx.doi.org/10.1007/s00467-007-0440-3DOI Listing
February 2008
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