Publications by authors named "Domenico Umberto De Rose"

30 Publications

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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

Growth and morbidity in infants with Congenital Diaphragmatic Hernia according to initial lung volume: A pilot study.

J Pediatr Surg 2021 Jul 8. Epub 2021 Jul 8.

Neonatal Surgery Unit, Medical and Surgical Department of Fetus - Newborn - Infant, "Bambino Gesù" Children's Hospital  IRCCS, Rome, Italy.

Background In congenital diaphragmatic hernia (CDH) survivors, failure to thrive is a well-known complication, ascribed to several factors. The impact of lung volume on growth of CDH survivors is poorly explored. Our aim was to evaluate if, in CDH survivors, lung volume (LV) after extubation correlates with growth at 12 and 24 months of life. Methods LV (measured as functional residual capacity-FRC) was evaluated by multibreath washout traces with an ultrasonic flowmeter and helium gas dilution technique, shortly after extubation. All CDH survivors are enrolled in a dedicated follow-up program. For the purpose of this study, we analyzed the correlation between FRC obtained shortly after extubation and anthropometric measurements at 12 and 24 months of age. We also compared growth between infants with normal lungs and those with hypoplasic lungs according to FRC values. A p < 0.05 was considered as statistically significant. Results We included in the study 22 CDH survivors who had FRC analyzed after extubation and auxological follow-up at 12 and 24 months of age. We found a significant correlation between FRC and weight Z-score at 12 months, weight Z-score at 24 months and height Z-score at 24 months. We also demonstrated that CDH infants with hypoplasic lungs had a significantly lower weight at 12 months and at 24 months and a significantly lower height at 24 months, when compared to infants with normal lungs. Conclusion We analyzed the predictive value of bedside measured lung volumes in a homogeneous cohort of CDH infants and demonstrated a significant correlation between FRC and growth at 12 and 24 months of age. An earlier identification of patients that will require an aggressive nutritional support (such as those with pulmonary hypoplasia) may help reducing the burden of failure to thrive.
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http://dx.doi.org/10.1016/j.jpedsurg.2021.06.013DOI Listing
July 2021

Extra-uterine growth restriction in preterm infants: Neurodevelopmental outcomes according to different definitions.

Eur J Paediatr Neurol 2021 Jun 24;33:135-145. Epub 2021 Jun 24.

Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS, Rome, Italy; Università Cattolica Del Sacro Cuore, Rome, Italy.

Aim: Extra-uterine Growth Restriction (EUGR) is common among preterm infants. Two types of EUGR definitions are still now available: cross-sectional definitions and longitudinal ones. In a cohort of very preterm infants, we aimed to evaluate which definition could better predict neurodevelopmental outcomes at 2 years of corrected age. We used Italian Neonatal Study Charts (INeS) growth charts and INTERGROWTH-21st (IG-21) standard charts and compared results.

Method: We restrospectively collected data from clinical charts of 324 preterm newborns with a gestational age ≤30 weeks born from 2012 to 2017. Then we compared forty-eight definitions (24 cross-sectional and 24 longitudinal) of EUGR, in term of neurodevelopmental outcomes at 2 years of corrected age.

Results: We included in the study 254 preterm infants, whose clinical information met the enrolment criteria. Nineteen out of 48 definitions of EUGR were significantly predictive both for Griffith's Development Quotient (GDQ) and Neurodevelopment Impairment (NDI). Among these, longitudinal definitions appeared to have a higher negative predictive value for NDI than cross-sectional ones. Furthermore, infants with EUGR appeared to have a lower cognitive score than their peers without EUGR.

Interpretation: A loss of Zs > 1 SDS in weight and head circumference, calculated from when physiological weight loss is over and identified as soon as possible rather than at discharge, better predicts neurodevelopmental outcomes of preterm infants.
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http://dx.doi.org/10.1016/j.ejpn.2021.06.004DOI Listing
June 2021

The Role of Lung Function Testing in Newborn Infants With Congenital Thoracic Arterial Anomalies.

Front Pediatr 2021 15;9:682551. Epub 2021 Jun 15.

Neonatal Intensive Care Unit, Medical and Surgical Department of Fetus, Newborn and Infant-"Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.

Congenital thoracic arterial anomalies (CTAAs), such as complete or incomplete vascular rings, pulmonary artery sling, and innominate artery compression syndrome, may cause severe tracheomalacia and upper airway obstruction. An obstructive ventilatory pattern at lung function testing (LFT) has been suggested in the presence of CTAA. The severity of obstruction may be evaluated by LFT. Little is known about the use of LFT in newborn infants with CTAA. The aim of our study is to evaluate the role of LFT in CTAA diagnosis. This is a retrospective study, conducted between February 2016 and July 2020. All CTAA cases for whom LFT was performed preoperatively were considered for inclusion. Tidal volume (Vt), respiratory rate, and the ratio of time to reach the peak tidal expiratory flow over total expiratory time (tPTEF/tE) were assessed and compared to existing normative data. Demographics and CTAA characteristics were also collected. Thirty cases were included. All infants with CTAA showed a significantly reduced Vt and tPTEF/tE, compared to existing normative data suggesting an obstructive pattern. No significant differences were found for LFT between cases with a tracheal obstruction <50% compared to those with tracheal obstruction ≥50%, or between cases with and without symptoms. Sixteen infants (53.3%) had respiratory symptoms related to CTAA. Of these, only two cases had also dysphagia. LFT values were significantly reduced in cases with CTAA before surgery. LFT represents a potential feasible and non-invasive useful tool to guide diagnosis in the suspect of CTAA.
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http://dx.doi.org/10.3389/fped.2021.682551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8239236PMC
June 2021

Pregnancy and viral infections: Mechanisms of fetal damage, diagnosis and prevention of neonatal adverse outcomes from cytomegalovirus to SARS-CoV-2 and Zika virus.

Biochim Biophys Acta Mol Basis Dis 2021 Jun 10;1867(10):166198. Epub 2021 Jun 10.

Fetal and Perinatal Medicine and Surgery Unit, Medical and Surgical Department of Fetus, Newborn and Infant - "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy. Electronic address:

Some maternal infections, contracted before or during pregnancy, can be transmitted to the fetus, during gestation (congenital infection), during labor and childbirth (perinatal infection) and through breastfeeding (postnatal infection). The agents responsible for these infections can be viruses, bacteria, protozoa, fungi. Among the viruses most frequently responsible for congenital infections are Cytomegalovirus (CMV), Herpes simplex 1-2, Herpes virus 6, Varicella zoster. Moreover Hepatitis B and C virus, HIV, Parvovirus B19 and non-polio Enteroviruses when contracted during pregnancy may involve the fetus or newborn at birth. Recently, new viruses have emerged, SARS-Cov-2 and Zika virus, of which we do not yet fully know the characteristics and pathogenic power when contracted during pregnancy. Viral infections in pregnancy can damage the fetus (spontaneous abortion, fetal death, intrauterine growth retardation) or the newborn (congenital anomalies, organ diseases with sequelae of different severity). Some risk factors specifically influence the incidence of transmission to the fetus: the timing of the infection in pregnancy, the order of the infection, primary or reinfection or chronic, the duration of membrane rupture, type of delivery, socio-economic conditions and breastfeeding. Frequently infected neonates, symptomatic at birth, have worse outcomes than asymptomatic. Many asymptomatic babies develop long term neurosensory outcomes. The way in which the virus interacts with the maternal immune system, the maternal-fetal interface and the placenta explain these results and also the differences that are observed from time to time in the fetal‑neonatal outcomes of maternal infections. The maternal immune system undergoes functional adaptation during pregnancy, once thought as physiological immunosuppression. This adaptation, crucial for generating a balance between maternal immunity and fetus, is necessary to promote and support the pregnancy itself and the growth of the fetus. When this adaptation is upset by the viral infection, the balance is broken, and the infection can spread and lead to the adverse outcomes previously described. In this review we will describe the main viral harmful infections in pregnancy and the potential mechanisms of the damages on the fetus and newborn.
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http://dx.doi.org/10.1016/j.bbadis.2021.166198DOI Listing
June 2021

Neonatal SARS-CoV-2 Infection: Practical Tips.

Pathogens 2021 May 17;10(5). Epub 2021 May 17.

Neonatal Intensive Care Unit and Neonatal pathology Unit, Policlinico San Matteo IRCCS Foundation, 27100 Pavia, Italy.

The recent viral pandemic in Wuhan, Hubei, China has led to the identification of a new species of beta-coronavirus, able to infect humans, the 2019-nCoV, later named SARS-CoV-2. SARS-CoV-2 causes a clinical syndrome named COVID-19, which presents with a spectrum of symptoms ranging from mild upper respiratory tract infection to severe pneumonia, with acute respiratory distress syndrome and frequent death. All age groups are susceptible to the infection, but children, especially infants, seem to be partially spared, having a more favorable clinical course than other age groups. There is currently no clear evidence showing vertical transmission and intrauterine SARS-CoV-2 infection in fetuses of women developing COVID-19 pneumonia in late pregnancy, and even if transmission is possible, the SARS-CoV2 positivity of the mother does not require delivery by caesarean section, does not contraindicate the management of the infant in rooming-in and allows breastfeeding. This review provides an overview on the biology of the virus, on the pathogenesis of the infection, with particular attention to pregnancy and neonatal age, on the clinical presentation of infection in newborns and young infants and summarizes the international recommendations currently available on the clinical care of neonates with SARS-CoV2 infection or at risk of catching the virus. The main objective of the review is to provide an update especially focused to the clinical management of COVID-19 infection in the perinatal and neonatal age.
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http://dx.doi.org/10.3390/pathogens10050611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157198PMC
May 2021

Severe herpes virus 6 interstitial pneumonia in an infant with three variants in genes predisposing to lung disease.

J Med Virol 2021 Aug 4;93(8):5182-5187. Epub 2021 May 4.

Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.

Infections due to human herpesvirus 6 (HHV-6) are frequent during early childhood. Usually, they have a favorable clinical course. Conversely, HHV-6 congenital infections occur in about 1% of neonates and may present with more severe clinical pictures. HHV-6 can be found in lung tissues and bronchoalveolar lavage (BAL) samples from patients with pneumonia and in immunocompromised patients can cause mild to severe pneumonia. In neonates, the role of HHV-6 in the genesis of severe pneumonia is poorly defined still now. We describe a healthy infant with a late-onset (15 days of life) severe interstitial pneumonia and heavy HHV-6 genome load, persistently detected in its BAL fluid. The baby underwent high-frequency oscillatory ventilation, hydroxychloroquine, steroids, and ganciclovir for 6 weeks and at 9 months she died. Next-generation sequencing of genes known to cause neonatal respiratory insufficiency revealed the presence of a "probably pathogenetic" heterozygous variant in the autosomal recessive DRC1 gene, a heterozygous variant of unknown significance (VUS) in the autosomal recessive RSPH9 gene, and a heterozygous VUS in the autosomal recessive MUC5B gene. HHV-6 infection should be considered in the differential diagnosis of late-onset severe respiratory distress in neonates and the co-occurrence of genetic predisposing factors or modifiers should be tested by specific molecular techniques. The intensity of HHV-6 genome load in BAL fluid could be an indicator of the response to antiviral therapy.
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http://dx.doi.org/10.1002/jmv.27016DOI Listing
August 2021

Invasive Infections in Neonates after Major Surgery: Current Evidence and New Directions.

Pathogens 2021 Mar 9;10(3). Epub 2021 Mar 9.

Neonatal Intensive Care Unit, Medical and Surgical Department of Fetus, Newborn and Infant, "Bambino Gesù" Children's Hospital IRCCS, 00165 Rome, Italy.

Infections represent a serious health problem in neonates. Invasive infections (ICIs) are still a leading cause of mortality and morbidity in neonatal intensive care units (NICUs). Infants hospitalized in NICUs are at high risk of ICIs, because of several risk factors: broad spectrum antibiotic treatments, central catheters and other invasive devices, fungal colonization, and impaired immune responses. In this review we summarize 19 published studies which provide the prevalence of previous surgery in neonates with invasive infections. We also provide an overview of risk factors for ICIs after major surgery, fungal colonization, and innate defense mechanisms against fungi, as well as the roles of different spp., the epidemiology and costs of ICIs, diagnosis of ICIs, and antifungal prophylaxis and treatment.
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http://dx.doi.org/10.3390/pathogens10030319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7999498PMC
March 2021

Time to Positivity of Blood Cultures Could Inform Decisions on Antibiotics Administration in Neonatal Early-Onset Sepsis.

Antibiotics (Basel) 2021 Jan 28;10(2). Epub 2021 Jan 28.

Neonatology Unit, Department of Woman and Child Health and Public Health-Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS, 00168 Rome, Italy.

(1) Background: Empirical antibiotics for suspected neonatal early-onset sepsis are often prolonged administered, even in the absence of clinical signs of infection, while awaiting the blood cultures results. The C-reactive protein is widely used to guide antibiotic therapy, although its increase in the first hours of life is not always evidence of infection. The aim of this study was to evaluate the time to positivity (TTP) of blood cultures (BC) that develop pathogens in our population of neonates and determine whether TTP could safely inform the decisions on empirical antibiotic discontinuation in neonatal early-onset sepsis and reduce the use of unnecessary antibiotics. (2) Methods: We retrospectively collected data of all newborns ≥ 34 weeks admitted to the Neonatal Intermediate-Care Unit at Policlinico "A. Gemelli" University Hospital (Rome, Italy) from 2014 to 2018, with suspected early-onset sepsis (EOS). The TTP was the time in hours from the first BC inoculation to the bacterial growth. We defined as positive BC only those with a pathogenic organism. (3) Results: In total, 103 out of 20,528 infants born in the five-year study period were admitted to our Neonatal Intermediate-Care Unit because of a suspected EOS and enrolled into the study. The mean TTP of pathogenic organisms was 17.7 ± 12.5 h versus 80.5 ± 55.8 h of contaminants ( 0.00). We found ten positive BCs. The TTP of BC was lower than 12, 36, and 48 h in 80%, 90%, and 100% of cases, respectively. CRP levels on admission were similar in infants with a positive and negative BC ( = 0.067). The discontinuation of therapy in asymptomatic infants 48 h after initiation would have resulted in a saving of 217 days of antibiotics (31.1% of total days administered). (4) Conclusion: From our data, the TTP of blood cultures that develop pathogens is less than 48 h in 100% of cases. Therefore, in late preterm and full-term infants with suspected EOS, stopping empiric antibiotics 48 h after initiation may be a safe practice to reduce unnecessary antibiotic use, when blood cultures are negative and infants asymptomatic.
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http://dx.doi.org/10.3390/antibiotics10020123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7910918PMC
January 2021

A neonatal cluster of novel coronavirus disease 2019: clinical management and considerations.

Ital J Pediatr 2020 Dec 7;46(1):180. Epub 2020 Dec 7.

Pediatrics Unit, University Department of Pediatrics (DPUO), Bambino Gesù Children's Hospital - IRCCS, Via della Torre di Palidoro, 00050, Fiumicino, Rome, Italy.

Background: Lately, one of the major clinical and public health issues has been represented by Coronavirus disease of 2019 (COVID-19) during pregnancy and the risk of transmission of the infection from mother to child. Debate on perinatal management and postnatal care is still ongoing, principally questioning the option of the joint management of mother and child after birth and the safety of breastfeeding. According to the available reports, neonatal COVID-19 appears to have a horizontal transmission and seems to be paucisymptomatic or asymptomatic, compared to older age groups. The aim of this work is to describe a cluster of neonatal COVID-19 and discuss our experience, with reference to current evidence on postnatal care and perinatal management.

Methods: This is a retrospective observational case series of five mother-child dyads, who attended the Labor and Delivery Unit of a first-level hospital in Italy, in March 2020. Descriptive statistics for continuous variables consisted of number of observations, mean and the range of the minimum and maximum values.

Results: Five women and four neonates tested positive for Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2). In one case, the mother-child dyad was separated and the neonate remained negative on two consecutive tests. Two positive neonates developed symptoms, with a predominant involvement of the gastrointestinal tract. Blood tests were unremarkable, except for a single patient who developed mild neutropenia. No complications occurred.

Conclusions: We agree that the decision on whether or not to separate a positive/suspected mother from her child should be made on an individual basis, taking into account the parent's will, clinical condition, hospital logistics and the local epidemiological situation. In conformity with literature, in our study, affected neonates were asymptomatic or paucisymptomatic. Despite these reassuring findings, a few cases of severe presentation in the neonatal population have been reported. Therefore, we agree on encouraging clinicians to monitor the neonates with a suspected or confirmed infection.
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http://dx.doi.org/10.1186/s13052-020-00947-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7720265PMC
December 2020

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

Neurodevelopmental outcomes in very preterm infants: The role of severity of Bronchopulmonary Dysplasia.

Early Hum Dev 2021 Jan 16;152:105275. Epub 2020 Nov 16.

Neonatology Unit, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario "Agostino Gemelli" IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.

Objective: Bronchopulmonary dysplasia is a chronic respiratory disease that still affects preterm neonates; its association with neurodevelopmental (ND) impairment is already known. Different studies investigated neurodevelopmental outcomes in infants with BPD, often using the old dichotomous definition (BPD vs Non-BPD). This retrospective study aims to evaluate the role of different BPD severity grades on ND outcomes at 24 months of corrected age (CA).

Methods: All preterm infants born between 2011 and 2015 in the study hospital with a gestational age (GA) ≤ 30 weeks and discharged from our NICU were included and were divided in infants with and without BPD. Infants with BPD were divided into three severity groups as defined by NICHD/NHLBI Workshop in 2001, and were compared to their Non-BPD peers, matching them according to the same GA and year of birth. At 24 months postmenstrual age, we assessed general outcomes (growth and hospital readmissions) and neurodevelopmental outcomes (motor, developmental and sensory outcomes) with a standardized assessment.

Results: We enrolled 89 patients affected by BPD of different grades of severity and a control group of 89 preterm infants without BPD. Infants with Moderate and Severe BPD showed a significantly higher corrected odds ratio (OR) for cognitive impairment compared to controls. Within the group of infants without severe disability (regarding Griffiths' scales), infants with Moderate and Severe BPD as well as infants with Mild BPD showed a significantly higher risk of a lower total Developmental Quotient (DQ) score, even after correction for confounding factors.

Conclusions: Our study evidenced that not only Severe BPD infants, but also Moderate ones showed a higher risk of overall cognitive impairment at 24 months CA. Within the group of infants without severe disability, also those with Mild BPD had lower Griffiths DQ scores than those without. This would suggest that infants with BPD, regardless of severity, warrant neurodevelopmental follow-up.
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http://dx.doi.org/10.1016/j.earlhumdev.2020.105275DOI Listing
January 2021

Universal Screening for SARS-CoV-2 of all Human Milk Bank Samples.

J Hum Lact 2021 02 22;37(1):40-42. Epub 2020 Sep 22.

9342 Neonatal Intensive Care Unit and Human Milk Bank, Medical and Surgical Department of Fetus - Newborn - Infant, Bambino Gesù Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1177/0890334420962074DOI Listing
February 2021

Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neonatal Age.

Int J Mol Sci 2020 Aug 17;21(16). Epub 2020 Aug 17.

Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, 00165 Rome, Italy.

Therapeutic drug monitoring (TDM) should be adopted in all neonatal intensive care units (NICUs), where the most preterm and fragile babies are hospitalized and treated with many drugs, considering that organs and metabolic pathways undergo deep and progressive maturation processes after birth. Different developmental changes are involved in interindividual variability in response to drugs. A crucial point of TDM is the choice of the bioanalytical method and of the sample to use. TDM in neonates is primarily used for antibiotics, antifungals, and antiepileptic drugs in clinical practice. TDM appears to be particularly promising in specific populations: neonates who undergo therapeutic hypothermia or extracorporeal life support, preterm infants, infants who need a tailored dose of anticancer drugs. This review provides an overview of the latest advances in this field, showing options for a personalized therapy in newborns and infants.
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http://dx.doi.org/10.3390/ijms21165898DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460644PMC
August 2020

Vertical Transmission of SARS-CoV-2 (COVID-19): Are Hypotheses More than Evidences?

Am J Perinatol 2020 09 5;37(S 02):S31-S38. Epub 2020 Aug 5.

Neonatal Intensive Care Unit, IRCCS Foundation Policlinico "San Matteo," Pavia, Italy.

In spite of the increasing, accumulating knowledge on the novel pandemic coronavirus severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), questions on the coronavirus disease-2019 (COVID-19) infection transmission from mothers to fetuses or neonates during pregnancy and peripartum period remain pending and have not been addressed so far. SARS-CoV-2, a RNA single-stranded virus, has been detected in the amniotic fluid, in the cord blood and in the placentas of the infected women. In the light of these findings, the theoretical risk of intrauterine infection for fetuses, or of peripartum infection occurring during delivery for neonates, has a biological plausibility. The extent of this putative risk might, however, vary during the different stages of pregnancy, owing to several variables (physiological modifications of the placenta, virus receptors' expression, or delivery route). This brief review provides an overview of the current evidence in this area. Further data, based on national and international multicenter registries, are needed not only to clearly assess the extent of the risk for vertical transmission, but also to ultimately establish solid guidelines and consistent recommendations. KEY POINTS: · Questions on the COVID-19 infection transmission from mothers to fetuses or neonates during pregnancy and peripartum period remain pending so far.. · The theoretical risk of intrauterine infection for fetuses, or of neonatal infection during delivery for neonates, has a biological plausibility.. · A caution is recommended in the interpretation of clinical and laboratory data in neonates..
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http://dx.doi.org/10.1055/s-0040-1714346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7645815PMC
September 2020

Overview of the rarest causes of fever in newborns: handy hints for the neonatologist.

J Perinatol 2021 Mar 27;41(3):372-382. Epub 2020 Jul 27.

Department of Life Sciences and Public Health, Fondazione Policlinico Universitario "A. Gemelli" IRCCS, Rome, Italy.

Neonatal causes of fever are a major source of concern for clinicians. If fever is combined with organ-specific sterile inflammatory manifestations the suspicion of autoinflammatory disorders should be considered, and the list of such conditions starting in the neonatal period includes chronic infantile neurological cutaneous articular syndrome, mevalonate kinase deficiency, deficiency of the interleukin-1 receptor antagonist, otulipenia, STING-associated vasculopathy with onset in infancy and Blau syndrome. Other causes of noninfectious fever that can rarely occur in newborns are Kawasaki disease, Behçet's disease, and hemophagocytic lymphohistiocytosis. Diagnosis of these exceptionally rare disorders is challenging for neonatologists. An early recognition of these complex diseases might lead to use more specific or rational drugs preventing permanent consequences. This review focuses on the rarest causes of fever occurring in the neonatal age with the aim of portraying many protean clinical pictures associated with fever and reviewing the potential available treatments.
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http://dx.doi.org/10.1038/s41372-020-0744-8DOI Listing
March 2021

Multichannel Intraluminal Impedance and pH Monitoring: A Step Towards Pediatric Reference Values.

J Neurogastroenterol Motil 2020 07;26(3):370-377

Department of Pediatrics, Aldo Moro University of Bari - Giovanni XXIII Hospital, Bari, Italy.

Background/aims: Combined multichannel intraluminal impedance and pH monitoring (MII/pH) is considered the most accurate test to detect gastroesophageal reflux (GER), however lacking reference values. We aim to determine reference values for the pediatric population and to correlate these values with age and postprandial/fasting period.

Methods: We evaluated MII/pH traces from patients (newborns, infants, and children) admitted to 3 Italian hospitals and who underwent MII/ pH for suspected GER disease. Patients with MII/pH traces that showed significant symptom-reflux associations and/or a pathological reflux index (> 6% for newborns and infants, > 3% for children) were excluded. Traces were analysed in their entirety, and in the postprandial period (first hour after a meal) and the fasting period (the following hours before the next meal) separately.

Results: A total of 195 patients (46 newborns, 83 infants, and 66 children) were included. Age positively correlated with frequency of acidic GER events ( = 0.37, < 0.05) and negatively associated with weakly acidic GER events ( = 0.46, < 0.05).

Conclusions: This study describes the distribution of MII/pH values in a pediatric population with normally acidic GER exposure and no significant association between GER events and symptoms. These MII/pH values may be used as reference values in clinical practice for a corrected GER disease diagnosis in the pediatric population.
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http://dx.doi.org/10.5056/jnm19205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7329155PMC
July 2020

Novel Coronavirus disease (COVID-19) in newborns and infants: what we know so far.

Ital J Pediatr 2020 Apr 29;46(1):56. Epub 2020 Apr 29.

Neonatal Intensive Care Unit, Department of Neonatology, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

Recently, an outbreak of viral pneumonitis in Wuhan, Hubei, China successively spread as a global pandemia, led to the identification of a novel betacoronavirus species, the 2019 novel coronavirus, successively designated 2019-nCoV then SARS-CoV-2). The SARS-CoV-2 causes a clinical syndrome designated coronavirus disease 2019 (COVID19) with a spectrum of manifestations ranging from mild upper respiratory tract infection to severe pneumonitis, acute respiratory distress syndrome (ARDS) and death. Few cases have been observed in children and adolescents who seem to have a more favorable clinical course than other age groups, and even fewer in newborn babies. This review provides an overview of the knowledge on SARS-CoV-2 epidemiology, transmission, the associated clinical presentation and outcomes in newborns and infants up to 6 months of life.
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http://dx.doi.org/10.1186/s13052-020-0820-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190200PMC
April 2020

Mild encephalitis/encephalopathy with reversible splenial lesion (MERS) in twin sisters with two CD36 frameshift mutations.

Neurol Sci 2020 Aug 28;41(8):2271-2274. Epub 2020 Apr 28.

Institute of Pediatrics, Fondazione Policlinico A. Gemelli IRCCS, Università Cattolica Sacro Cuore, Rome, Italy.

Mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) is a clinical radiological syndrome with good prognosis that affects mainly children or young adults. We describe two cases of MERS, associated with echovirus 6 and influenza A infection, in two twin sisters, at the age of 4 years. Genetic analysis was performed; next exome sequencing was performed on twins to disclose the eventual causative gene. Two different frameshift mutations in the CD36 gene [NM_000072] were found in both twins and confirmed by Sanger sequencing. To best of our knowledge, we report an association between CD36 mutation and MERS. We think that this relation between CD36 and inflammation has had a crucial role in the same callosal alteration during viral disease in the twin sister with the same gene mutation.
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http://dx.doi.org/10.1007/s10072-020-04417-2DOI Listing
August 2020

Use of Disinfectant Wipes to Sanitize Milk's Containers of Human Milk Bank During COVID-19 Pandemic.

J Hum Lact 2020 08 23;36(3):547-549. Epub 2020 Apr 23.

Neonatal Intensive Care Unit and Human Milk Bank - Department of Medical and Surgical Neonatology, "Bambino Gesù" Children's Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1177/0890334420924639DOI Listing
August 2020

Managing COVID-19-Positive Maternal-Infant Dyads: An Italian Experience.

Breastfeed Med 2020 05 21;15(5):347-348. Epub 2020 Apr 21.

Department of Pediatrics, IRCCS "Bambino Gesù" Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1089/bfm.2020.0095DOI Listing
May 2020

Therapeutic Hypothermia and Leukocytosis in Newborns: An Unusual Association.

J Pediatr Hematol Oncol 2020 11;42(8):e759-e761

Department of Pediatrics, Catholic University of the Sacred Heart.

Therapeutic hypothermia is a standardized intervention for the treatment of moderate-severe hypoxic-ischemic encephalopathy in newborns with gestational age ≥35 weeks. Several complications have been described. Our aim was to report a case of leukocytosis, for the first time in the literature, in a term newborn who underwent therapeutic hypothermia.
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http://dx.doi.org/10.1097/MPH.0000000000001648DOI Listing
November 2020

Infants born to mothers with autoimmune thyroid disorders: "Why" should we always measure anti-TSH-receptor antibodies.

Early Hum Dev 2019 Oct 26;140:104906. Epub 2019 Oct 26.

Neonatology Unit, Department of Pediatrics, Fondazione Policlinico "A. Gemelli" IRCCS - Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1016/j.earlhumdev.2019.104906DOI Listing
October 2019

Should isolated Pseudo-Bartter syndrome be considered a CFTR-related disorder of infancy?

Pediatr Pulmonol 2019 10 21;54(10):1578-1583. Epub 2019 Jul 21.

Department of Pediatrics, Regional support Centre for Cystic Fibrosis, Children's Hospital - ASST Spedali Civili, University of Brescia, Brescia, Italy.

Background: Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well-known clinical manifestation of CF termed Pseudo-Bartter syndrome (PBS). Here, we report the cases of three CF-negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases.

Methods: Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium (<134mmol/L), potassium ( <3.4mmol/L), and chloride ( <100mmol/L), with metabolic alkalosis (bicarbonatemia >27mmol/L) in the absence of renal tubulopathy.

Results: Three out of 73 (4%) CF infants presented with a severe metabolic alkalosis with salt depletion; two of these required admission to the intensive care unit. Two infants had a negative NBS, and one was identified as a CF carrier. Sweat test was repeatedly in the negative/borderline ranges for all patients. Less than two CF causing mutations were identified (F508del/R1070W, F508del; L467F/P5L, R1066H/P5L). During a mean follow-up of 9 years, the children had no other CF manifestations.

Conclusion: We suggest that PBS as the sole manifestation of CFTR dysfunction might be considered a CFTR-related disorder of infancy.
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http://dx.doi.org/10.1002/ppul.24433DOI Listing
October 2019

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

Overview of fever of unknown origin in adult and paediatric patients.

Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):10-24. Epub 2018 May 3.

Paediatric Clinic, University of Brescia and ASST Spedali Civili di Brescia, Italy.

Fever of unknown origin (FUO) can be caused by a wide group of diseases, and can include both benign and serious conditions. Since the first definition of FUO in the early 1960's, several updates to the definition, diagnostic and therapeutic approaches have been proposed. This review outlines a case report of an elderly Italian male patient with high fever and migrating arthralgia who underwent many procedures and treatments before a final diagnosis of Adult-onset Still's disease was achieved. This case report highlights the difficulties in diagnosing certain causes of FUO that requires a very high index of suspicion. The main causes of FUO in paediatric and adult patients will be reviewed here, underlying the fact that a physician should also consider the possibility that a patient with FUO may have a monogenic autoinflammatory disease (AID). The identification of AIDs requires a careful evaluation of both history and clinical details that may reveal important clues to identify the correct aetiology. We also provide a comprehensive account of specific signs and symptoms that could suggest possible diagnoses and guide the work-up of FUO and non-genetic periodic fevers in children.
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July 2018

Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.

Clin Immunol 2018 06 13;191:75-80. Epub 2018 Mar 13.

Clinica Pediatrica and "A. Nocivelli" Institute for Molecular Medicine, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili Hospital, Brescia, Italy; Cytogenetic and Medical Genetics Unit and "A. Nocivelli" Institute for Molecular Medicine, Spedali Civili Hospital, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy. Electronic address:

Leukocyte Adhesion Deficiency type 1 (LAD-1) is a rare primary immunodeficiency due to mutations in the gene encoding for the common β-chain of the β2 integrin family (CD18). Herein, we describe clinical manifestations and long-term complications of eight LAD-1 patients. Four LAD-1 patients were treated with hematopoietic stem cell transplantation (HSCT), while the remaining four, including two with moderate LAD-1 deficiency, received continuous antibiotic prophylaxis. Untreated patients presented numerous infections and autoimmune manifestations. In particular, two of them developed renal and intestinal autoimmune diseases, despite the expression of Beta-2 integrin was partially conserved. Other two LAD-1 patients developed type 1 diabetes and autoimmune cytopenia after HSCT, suggesting that HSCT is effective for preventing infections in LAD-1, but does not prevent the risk of the autoimmune complications.
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http://dx.doi.org/10.1016/j.clim.2018.03.005DOI Listing
June 2018

Can MII-pH values predict the duration of treatment for GERD in preterm infants?

Early Hum Dev 2014 Sep 21;90(9):501-5. Epub 2014 Jul 21.

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

Background: Little is known regarding the prognostic role of Multichannel Intraluminal Impedance and pH monitoring (MII/pH) parameters in preterm infants with Gastro-Esophageal Reflux Disease (GERD).

Aim: Our study aimed to evaluate the relationship between MII/pH variables and the duration of pharmacological therapy for GERD, in preterm infants with gestational age (GA) ≤34weeks.

Subjects, Study Design, Outcome Measures: We retrospectively reviewed data of all newborns with GA ≤34weeks that underwent MII/pH in our Neonatal Intensive Care Unit (NICU) and pharmacological treatment for GERD. We included them in a 12-month follow-up program. MII/pH parameters were used as independent variables and the duration of pharmacological therapy as dependent variable in linear regression models.

Results: 16 patients (GA 28.4±1.8weeks, BW 1122±427g) were enrolled into the study. Regression analysis performed on all reflux events reported a significant correlation between the duration of pharmacological treatment and MII-BEI (r(2)=0.36, p=0.01) and MII-reflux frequency (r(2)=0.33, p=0.02). Moreover, regression analysis performed on all events classified according to the corresponding pH change - acidic (ac.), weakly acidic (w.ac.) or weakly alkaline (w.a.) - showed a significant correlation between the duration of pharmacological treatment and MII-w.ac.BEI (r(2)=0.26, p=0.05), MII-w.ac. reflux frequency (r(2)=0.44, p=0.01), and MII-proximal w.ac. reflux frequency (r(2)=0.35, p=0.02). No statistically significant correlation was found between pH-Reflux Index and the duration of treatment.

Conclusion: The study shows how, in our population of preterm infants, MII-parameters could have not only a diagnostic role, but also a prognostic value in terms of the duration of pharmacological treatment.
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http://dx.doi.org/10.1016/j.earlhumdev.2014.07.003DOI Listing
September 2014