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Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia. We report a preterm female newborn, the third child of non-related caucasian parents, with CMTC at birth who showed typical cutaneous features and monolateral congenital glaucoma. The pathogenesis of this disorder is unknown and the cause is probably multifactorial. Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiological factors. Prognosis, in uncomplicated cases, is good.

Background: FPIES (Food Protein Induced Eneterolitis Syndrome) is a rare non IgE- mediated food allergy, usually affecting infants and children after first months of life. Clinical presentation is heterogeneous, usually characterised by repetitive vomiting and diarrhoea, lethargy, failure to thrive until to dehydration with hypotension and shock. The diagnosis is based on clinical criteria, after excludind other hypothetical conditions. Early recognition of FPIES is essential to set a correct dietatay management that is resolving for the patient., Case Report: We present the case of a 12 days old child who was admitted to the hospital for poor feeding, failure to thrive and severe metabolic acidosis., Conclusions: The early onset of this case is peculiar and rember us to consider FPIES in differential diagnosis of newborn metabolica acidosis.

Perinatal asphyxia is an event affecting around four million newborns worldwide. The 0.5 to 2 per 1000 of full term asphyxiated newborns suffer from hypoxic-ischemic encephalopathy (HIE), which is a frequent cause of death or severe disability and, as consequence, the most common birth injury claim for obstetrics, gynaecologists, and paediatricians. Perinatal asphyxia results from a compromised gas exchange that leads to hypoxemia, hypercapnia, and metabolic acidosis. In this work, we applied a metabolomics approach to investigate the metabolic profiles of urine samples collected from full term asphyxiated newborns with HIE undergoing therapeutic hypothermia (TH), with the aim of identifying a pattern of metabolites associated with HIE and to follow their modifications over time. Urine samples were collected from 10 HIE newborns at birth, during hypothermia (48 hours), at the end of the therapeutic treatment (72 hours), at 1 month of life, and compared with a matched control population of 16 healthy full term newborns. The metabolic profiles were investigated by 1H NMR spectroscopy coupled with multivariate statistical methods such as principal component analysis and orthogonal partial least square discriminant analysis. Multivariate analysis indicated significant differences between the urine samples of HIE and healthy newborns at birth. The altered metabolic patterns, mainly originated from the depletion of cellular energy and homeostasis, seem to constitute a characteristic of perinatal asphyxia. The HIE urine metabolome changes over time reflected either the effects of TH and the physiological growth of the newborns. Of interest, the urine metabolic profiles of the HIE non-surviving babies, characterized by the increased excretion of lactate, resulted significantly different from the rest of HIE population.

Objective: To evaluate the efficacy of combined pulse oximetry (POX) and perfusion index (PI) neonatal screening for severe congenital heart defects (sCHD) and assess different impacts of screening in tertiary and nontertiary hospitals., Study Design: A multicenter, prospective study in 10 tertiary and 6 nontertiary maternity hospitals. A total of 42 169 asymptomatic newborns from among 50 244 neonates were screened; exclusion criteria were antenatal sCHD diagnosis, postnatal clinically suspected sCHD, and neonatal intensive care unit admission. Eligible infants underwent pre- and postductal POX and PI screening after routine discharge examination. Targeted sCHD were anatomically defined. Positivity was defined as postductal oxygen saturation (SpO 2 ) ≤95%, prepostductal SpO 2 gradient >3%, or PI <0.90. Confirmed positive cases underwent echocardiography for definitive diagnosis. Missed cases were identified by consulting clinical registries at 6 regional pediatric heart centers. Main outcomes were incidence of unexpected sCHD; proportion of undetected sCHD after discharge in tertiary and nontertiary hospitals; and specificity, sensitivity, positive predictive value, and negative predictive value of combined screening., Results: One hundred forty-two sCHD were detected prenatally. Prevalence of unexpected sCHD was 1 in 1115 live births, similar in tertiary and nontertiary hospitals. Screening identified 3 sCHD (low SpO 2 , 2; coarctation for low PI, 1). Four cases were missed. In tertiary hospitals, 95% of unsuspected sCHDs were identified clinically, whereas only 28% in nontertiary units; in nontertiary units PI-POX screening increased the detection rate to 71%., Conclusions: PI-POX predischarge screening provided benefits in nontertiary units, where clinical recognition rate was low. PI can help identify coarctation cases missed by POX but requires further evaluation in populations with higher rates of missed cases., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: Perinatal asphyxia is a severe clinical condition affecting around four million newborns worldwide. It consists of an impaired gas exchange leading to three biochemical components: hypoxemia, hypercapnia and metabolic acidosis., Methods: The aim of this longitudinal experimental study was to identify the urine metabolome of newborns with perinatal asphyxia and to follow changes in urine metabolic profile over time. Twelve babies with perinatal asphyxia were included in this study; three babies died on the eighth day of life. Total-body cooling for 72 hours was carried out in all the newborns. Urine samples were collected in each baby at birth, after 48 hours during hypothermia, after the end of the therapeutic treatment (72 hours), after 1 week of life, and finally after 1 month of life. Urine metabolome at birth was considered the reference against which to compare metabolic profiles in subsequent samples. Quantitative metabolic profiling in urine samples was measured by gas chromatography mass spectrometry (GC-MS). The statistical approach was conducted by using the multivariate analysis by means of principal component analysis (PCA) and orthogonal partial least square discriminant analysis (OPLS-DA). Pathway analysis was also performed., Results: The most important metabolites depicting each time collection point were identified and compared each other. At birth before starting therapeutic hypothermia (TH), urine metabolic profiles of the three babies died after 7 days of life were closely comparable each other and significantly different from those in survivors., Conclusions: In conclusion, a plethora of data have been extracted by comparing the urine metabolome at birth with those observed at each time point collection. The modifications over time in metabolites composition and concentration, mainly originated from the depletion of cellular energy and homeostasis, seems to constitute a fingerprint of perinatal asphyxia., Competing Interests: The authors have no conflicts of interest to declare.

Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia. We report a preterm female newborn, the third child of non-related caucasian parents, with CMTC at birth who showed typical cutaneous features and monolateral congenital glaucoma. The pathogenesis of this disorder is unknown and the cause is probably multifactorial. Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiological factors. Prognosis, in uncomplicated cases, is good.

Advances in neonatal intensive care have greatly improved survival rates for children born in a very early stage of lung development (i.e. less than 26 weeks of gestation). In these premature babies, even low levels of oxygen and methods of minimally invasive ventilation may disrupt the growth of the distal airways, a condition described as "new" bronchopulmonary dysplasia (BPD). Ureaplasma infection can occur in utero or in the perinatal period in premature infants, in some of which the infection with these organisms triggers an important lung pro-inflammatory and pro-fibrotic response, and may increase the risk of developing BPD. The inflammation may be worsened by exposure to oxygen and mechanical ventilation. At present, clinical studies have not clarified the role of Ureaplasma in the pathogenesis of BPD and there is insufficient evidence to determine whether antibiotic treatment of Ureaplasma has influence on the development of BPD and its comorbidities. Future research in the context of well-designed and controlled clinical trials of adequate statistical power should focus on how to determine whether the treatment of Ureaplasma decreases lung inflammation, reduces rates of BPD, and improves long-term neurodevelopment., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

Objective: EEG and MRI are useful tools to evaluate the severity of brain damage and to provide prognostic indications in asphyxiated neonates. Aim of our study is to analyze the relationship between serial neonatal EEGs and severity and sites of brain lesions on MRI in neonates undergoing hypothermia, following a hypoxic-ischemic injury., Patients and Methods: Forty-eight term newborns underwent hypothermia. Serial videoEEG recordings were taken at 6, 24, 48 and 72 h and during 2nd week of life. Brain MRI was performed at the end of 2nd postnatal week and correlated with EEG., Results: EEGs improved during the first days. At the first recording 25 infants showed a severe or very low amplitude EEG pattern while at the 2nd week only 7 showed such patterns. As regards MRI, 21 infants showed a predominant Basal Ganglia and Thalami damage, 4 infants showed a predominant focal Thalami lesion and 23 showed normal imaging or just mild White Matter abnormalities. Severity of EEG pattern was associated with the odds of having MRI lesions at Basal Ganglia, Thalami, White Matter, Internal Capsule, but not at Cortex. Infants who showed only mild EEG abnormalities in the first 2 days had no Basal Ganglia and Thalami MRI lesion. The persistence of a discontinuous EEG at the 2nd week recording is always associated with Basal Ganglia and Thalami damage., Conclusion: The severity of EEG background is associated with severity and site of MRI lesion pattern in neonates treated with hypothermia because of hypoxic-ischemic encephalopathy., (Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Unlabelled: Therapeutic hypothermia is now the standard of care for brain injury control in term infants with perinatal hypoxic ischemic encephalopathy (HIE). Accumulated evidence shows a reduction in mortality and long-term neurodevelopmental disability at 12-24 months of age, with more favourable effects in the less severe forms of HIE. Only few trials recruited newborns <36 weeks gestational age, or mild-to-moderate encephalopathy with base deficit (BD) <16. The new categories of patients to be enrolled should include (late) preterm infants, neonates with unexpected postnatal collapse, and newborns with stroke. Preterm HIE: Therapeutic hypothermia shows a good safety profile in clinical studies, and no adverse effects were noted in the preterm fetal animal model. Recently, it has been shown that mild hypothermia in preterm newborns with necrotizing enterocolitis (NEC) and multiple organ dysfunction syndrome (MODS) does not increase mortality, bleeding, infection, or need for inotropes in cooled newborns. A pilot study (NCT00620711) is currently recruiting newborns of > 32 but < 36 weeks gestation with standard criteria for HIE. Postnatal Collapse: The postnatal collapse (PNC) is a rare (0.03-0.5/1000 live births) but life-threatening hypoxic-ischemic event. No clinical trials of therapeutic hypothermia have specifically addressed to PNC. Nevertheless, a beneficial effect of brain cooling is expectable, and it has been proposed to include in brain hypothermia trials the infants with PNC fulfilling the entry criteria for HIE. Stroke: Perinatal arterial ischemic stroke is the most common cause of cerebral palsy (CP) in term and near-term newborn. In a systematic review and meta-analysis of animal studies of focal cerebral ischemia, hypothermia reduced the infarct size by 44%. No specific neuroprotective interventions are available for the management of acute perinatal stroke. Hypothermia may decrease seizures in newborns with encephalopathy and a focal infarct, potentially improving the long-term outcome for these infants., Concluding Remarks: Future studies of therapeutic hypothermia should include the categories of newborns excluded from the published clinical trials, that is infants <36 weeks gestation, PNC or stroke, or admitted outside of the established 6-hour window, and with encephalopathy not imputable to HIE. New entry criteria will allow significant number of newborns to benefit from the treatment.

Background: Observation of the quality of endogenously generated "General Movements" has been proved to be a reliable and sensitive tool in the assessment of fragile neonates. The absence of fidgety movements at 2-4 months post-term is highly predictive of Cerebral Palsy. On the contrary, the presence of a poor repertoire pattern during the writhing period is not reliable in predicting motor or neurobehavioral disorders at any stage of development., Aim: To examine if the presence of a PR pattern at 1 month post-term was associated with lower neurodevelopmental quotients at 2 years., Study Design: General Movements evaluation at 1 and 3 months and the Griffiths Scales of Mental Development at 2 years were administered to a sample of very preterm infants. Infants were divided into two groups: poor repertoire pattern group and normal pattern group. Student's t Test and Chi squared test and ANOVA were used to compare neonatal variables and results between the two groups., Subjects: 79 very preterm infants (birthweight≤1500 g or gestational age≤32 weeks), born January 2003 to December 2006 who had a follow-up at 2 years., Outcome Measure: Griffiths developmental quotient at 2 years., Results: The Poor Repertoire group had lower Gestational Age, lower Birth Weight, lower Apgar scores at birth and lower Developmental Quotient at 2 years. Eye and Hand Coordination (subscale D) was the domain mostly responsible for such a difference. Quality of fidgety movements (normal or abnormal fidgety) at 3 months did not show any correlation with outcome measures at 2 years., Conclusion: The presence of a PR pattern at 1 month post-term seems to predict lower neurodevelopmental scores at 2 years especially in the domain of eye and hand coordination. Longer follow-up is necessary in order to ascertain if such difference will continue to persist at older ages., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Therapeutic hypothermia (whole body or selective head cooling) is recognized as standard of care for brain injury control in term infants with perinatal hypoxic ischemic encephalopathy (HIE). Recent metanalyses and systematic reviews in human newborns have shown a reduction in mortality and long-term neurodevelopmental disability at 12-24 months of age, with more favourable effects in the less severe forms of HIE. HIE is most often noted in term newborns. Preterm infants can also suffer from HIE, but the clinical manifestations and pathology are different, involving subcortical gray matter injury in association with white matter damage. Several term and preterm animal experimental models showed that a reduction in brain temperature following a hypoxic-ischemic insult reduces energy expenditure and may reduce histological neuronal loss, but little is known on the safety of therapeutic hypothermia in preterm or very low birth weight (VLBW) infants. Hypothermia is one of the most promising future interventions for the treatment of acute ischemic stroke, and seems to improve survival and neurologic outcome after cardiac arrest in adults. Similarly, recent reviews have emphasized the possible role of therapeutic hypothermia after pediatric cardiac arrest, and a trial is ongoing to assess the benefits of induced hypothermia in pediatric traumatic brain injury. So far, there is a lack of data on other possible indications, i.e., neonates with stroke or after cardio-pulmonary resuscitation, and necrotizing enterocolitis. Carefully designed safety studies and large randomized trials for all the above conditions and especially for preterm infants should be planned.

Pasteurella multocida is normally present in respiratory and digestive tract of many domestic and wild animals, but is a rare pathogen in neonatal infection. Here we describe for the first time a case of meningitis complicated by status epilepticus and right parietal lobe cerebritis. The patient showed a dramatic clinical onset characterized by septic appearance and prolonged seizures. Multidrug anticonvulsivant therapy was used to control the status epilepticus, but despite the aggressive treatment electrical crises were still evident 24 hours after the admission. Furthermore, a brain MRI, performed to investigate a persistent intermittent fever even if CSF became sterile, showed a focus cerebritis in the right parietal lobe, early stage of the cerebral abscess. Prolonged antibiotic therapy with steroids was requested to solve the cerebritis area. Interestingly, direct contact between the patient and domestic animals was denied by the family, but the father reported a contact with a rooster, killed and cooked few days before, suggesting, as previously described, that Pasteurella may also be transmitted through asymptomatic human carrier. The patient had a favourable outcome with no medium-term sequelae one month after discharge, but the severity of the clinical course and the unpredictable way of transmission highlight the importance of hygiene measures approaching infants.

Therapeutic hypothermia (whole body or selective head cooling) is becoming standard of care for brain injury in infants with perinatal hypoxic ischemic encephalopathy (HIE). Brain cooling reduces the rate of apoptosis and early necrosis, reduces cerebral metabolic rate and the release of nitric oxide and free radicals. Animal models of perinatal brain injury show histological and functional improvement due to of early hypothermia. The brain protection depends on the temperature and time delay between insult and beginning of treatment (more effective with cooling to 33 +/- 0.5 degrees C, and less than 6 hours after hypoxic-ischemic insult). Recent meta-analyses and systematic reviews in human neonates show reduction in mortality and long-term neurodevelopmental disability at 12-24 months of age, with more favourable effects in the less severe forms of HIE. The authors describe their experience in 53 term newborns with moderate-severe HIE treated with whole body cooling between 2001 and 2009, and studied with magnetic resonance imaging (MRI) and general movements (GMs) assessment. The creation of a network connecting the Neonatal Intensive Care Unit with the level I-II hospitals of the reference area, as part of regional network, is of paramount importance to enroll potential candidates and to start therapeutic hypothermia within optimal time window.

The frequency of early-onset neonatal sepsis without prophylaxis is 1-5/1.000 live births. Since year '70 the most frequent causative microorganism is the group B Streptococcus (S. agalactiae, GBS), followed by Escherichia coli. The mortality rate is now reduced to 4% due to the improvement of neonatal intensive care. In the USA, the incidence of GBS early-onset neonatal sepsis has been markedly reduced by the application of the guidelines released by the Centers for Disease Control (CDC). This strategy, however, is not effective on occurrence of late-onset neonatal group B streptococcal disease. In Italy, the application of CDC guidelines is not customary, and different, often complex, protocols of obstetrical-neonatological integrated approach are applied. The frequency of infectious risk has made the GBS a paramount problem for the neonatologist, even for the legal responsibility issues resulting from the multiplicity of possible options. To reach the best level of protection of the newborn against early-onset GBS infection, the working group of providers of prenatal, obstetric, and neonatal care of the functional area of Cuneo issued an integrated protocol, in order to perform the GBS screening with the optimal culture method suggested by CDC guidelines in the highest possible number of pregnant women, and to standardize the obstetrical and neonatal management.

We attempted to verify in a group of 101 children with first urinary tract infection whether it was possible to identify groups of patients with different risks of developing renal scarring by taking into account both the extent of kidney involvement documented in the acute phase of infection using a dimercaptosuccinic acid (DMSA) scan, and the presence or absence of vesicoureteral reflux (VUR). The frequency of persistent lesions in kidneys with mild-moderate lesions (less than 50% of kidney involvement) in the presence of VUR or in non-refluxing kidneys was similar (P=0.1447), while the frequency of persistent lesions in kidneys with severe lesions in the presence of VUR was significantly higher than the frequency of persistent lesions in non-refluxing kidneys (P=0.0089). The extent of kidney involvement and the presence of VUR make possible the identification of different categories of risk of scarring: in the "low risk group" (normal kidney with/without VUR) the risk of scarring is 0%; in the "intermediate risk group" (mild lesions with/without VUR; extensive lesions without VUR) the risk of scarring is between 14% and 38%, while in the "high risk group" (extensive lesions with VUR) the risk of scarring is 88%. Quantifying the risk of scarring could help in planning the treatment or in modifying the later strategy.

This prospective study, performed in 101 children with a first symptomatic urinary tract infection (UTI), evaluates the diagnostic value of clinical, biological, and ultrasound parameters in detecting children with acute renal infection documented by dimercaptosuccinic acid (DMSA) scintigraphy. In children with a positive DMSA scan, mean C-reactive protein (CRP) was higher than in children with a normal DMSA scan (114+/-64 vs. 67+/-38 mg/dl, mean+/-SD, P=0.0002). The sensitivity and specificity of CRP was 64% and 68%, respectively. In children with severe kidney involvement, mean CRP and white blood count (WBC) were higher than in children with mild/moderate disease (151+/-83 vs. 92+/-55 mg/dl for CRP, P=0.0149; 20,100+/-6,854 vs. 15,023+/-6,145 WBC/ mm3 for WBC, P=0.0131). The sensitivity and specificity was 85% and 20% for CRP, and 77% and 18% for WBC, respectively. One or more areas of abnormal cortical echogenicity were documented in 3% of kidneys with positive DMSA scans. Dilatation of the collecting system was observed in 24% of kidneys. The sensitivity and specificity of ultrasonography was 27% and 89%, respectively. In conclusion, clinical, biological, and ultrasound parameters do not accurately distinguish cystitis from pyelonephritis in children with UTI and do not identify children with severe renal damage. Accordingly, we recommend that DMSA scan should be added to the initial work-up of children with UTI.