Journal of Pediatric and Neonatal Individualized Medicine (JPNIM) <p>The <strong>Journal of Pediatric and Neonatal Individualized Medicine (JPNIM)</strong> is a peer-reviewed interdisciplinary journal which provides a forum on new perspectives in pediatric and neonatal medicine. The aim is to discuss and to bring readers up to date on the latest in research and clinical pediatrics and neonatology. Special emphasis is on developmental origin of health and disease or perinatal programming and on the so-called ‘-omic’ sciences. Systems medicine blazes a revolutionary trail from reductionist to holistic medicine, from descriptive medicine to predictive medicine, from an epidemiological perspective to a personalized approach. The journal will be relevance to clinicians and researchers concerned with personalized care for the newborn and child. Also medical humanities will be considered in a tailored way.</p> <p>Article submission (original research, review papers, invited editorials and clinical cases) will be considered in the following fields: fetal medicine, perinatology, neonatology, pediatrics, developmental programming, psychology and medical humanities.</p> en-US Journal of Pediatric and Neonatal Individualized Medicine (JPNIM) 2281-0692 <p>© Hygeia Press</p> <p> </p> <h3>Copyright and publishing rights</h3> <p>Regarding copyright, before publication, Authors declare that, in consideration of the action of JPNIM in reviewing and editing their submission, they transfer, assign, or otherwise convey all copyright ownership, including any and all rights incidental thereto, exclusively to the JPNIM Publisher (Hygeia Press di Corridori Marinella).</p> <div> <div> <div> <div> <div> <p>Authors have the opportunity to reuse figures, tables and selected text up to 250 words from their article as finally published, providing that full and accurate credit shall be given to publication in JPNIM and that modifications are noted (otherwise no changes may be made).</p> </div> </div> </div> </div> </div> Congenital ocular anomalies in newborns: a practical atlas <p>All newborns should be examined for ocular structural abnormalities, an essential part of the newborn assessment. Early detection of congenital ocular disorders is important to begin appropriate medical or surgical therapy and to prevent visual problems and blindness, which could deeply affect a child’s life. The present review aims to describe the main congenital ocular anomalies in newborns and provide images in order to help the physician in current clinical practice.</p> Federico Mecarini Vassilios Fanos Giangiorgio Crisponi Copyright (c) 2020 © Hygeia Press 2020-09-04 2020-09-04 9 2 e090207 e090207 10.7363/090207 MEDNIK syndrome: a new entry in the spectrum of inborn errors of copper metabolism Copper homeostasis, including intestinal absorption, blood transport, uptake, trafficking and excretion, is regulated by multiple genes encoding for specific copper transporters, which coordinate copper bioavailability. Mutations in genes coding for copper pumps or copper chaperons are responsible for copper overload or deficiency, with relevant consequences on cell structure and human health. The spectrum of genetic disorders of copper metabolism includes multiple entities, characterized by different clinical presentation, with liver and brain as target organs.<br />In recent years, a new autosomal recessive muco-cutaneous syndrome characterized by Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Icthiosis and Keratodermia (MEDNIK) has been described in several French-Canadian families.<br /> Regarding the molecular pathways involved in MEDNIK syndrome, AP1S1 has been identified as the pivotal gene involved in the correct functioning of AP-1 complex, which is responsible for the crosstalk between the trans-Golgi network and the other endosomes.<br /> MEDNIK syndrome opens a new field of human pathology, that has been called “adaptinopathies” including all congenital diseases associated with mutations in genes coding for adaptor complexes subunits. Moreover, the report of MEDNIK syndrome induces to focus on the developing spectrum of inborn errors of copper metabolism, where at least eight diseases may be included. Gavino Faa Clara Gerosa Massimo Castagnola Copyright (c) 2020-05-14 2020-05-14 9 2 e090202 e090202 10.7363/090202 The importance of laboratory medicine in the era of COVID-19 pandemic: a challenge for patients, pediatricians, obstetricians, and clinical pathologists The dramatic and rapid widespread of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection is causing millions of infected subjects and thousand of deaths worldwide. The current global goal is to mitigate or suppress the burden of COronaVIrus Disease 2019 (COVID-19) and to adopt effective targeted therapies. Laboratory tests include molecular diagnostics and viral antigens recognition for the identification of SARS-CoV-2 in human biological materials, serologic methods for detecting serum antibodies against SARS-CoV-2 and routine blood and urine tests. Many molecular tests, mainly based on real-time polymerase chain reaction (RT-PCR), have been developed after the publication of the SARS-CoV-2 full-length genome sequence; several factors may affect their accuracy, including inadequate sample collection, thermal inactivation, viral load, and cross-reactivity. In-vitro diagnostic (IVD) companies have developed serologic methods optimized on high throughput analytical platforms; however very few methods currently detect IgM and the accurate quantitative measurement of antibodies are not still ready. Sensitivity and specificity require robust validation; point of care (POC) lateral flow immunochromatographic assays are far to be highly sensitive and specific and data obtained by these methods should be evaluated with caution. The effectiveness of serologic tests depends on the appropriateness of test request too. Routine biochemical data in adults with COVID-19 reveal alterations of various tests, including lymphopenia, thrombocytopenia, hypoalbuminemia, and serum elevation of several biomarkers, including D-dimer, ferritin, C-reative protein (CRP), cytokines. Cardiac troponins and N-terminal pro-brain natriuretic peptide (NT-pro BNP) are predictors of adverse outcome and death. Vertical transmission of SARS-CoV-2 has been not yet demonstrated exhaustively. Regrettably, in pregnant women, newborns and children with COVID-19, very limited and confusing data hamper a definitive conclusion on the value of routine laboratory tests. Emerging opportunities arise from the introduction of microbiomics, metabolomics, and pharmacometabolomics for improving patient’s care and outcome.<br /> Michele Mussap Copyright (c) 2020-05-16 2020-05-16 9 2 e090201 e090201 10.7363/090201 Epidemiology of SARS-CoV-2: numbers matter! The ongoing pandemic is the result of the spread of a recently identified Coronavirus, named SARS-CoV-2 (Severe Acute Respiratory Syndrome – Coronavirus – 2).<br />Since 31<sup>th</sup> December 2019, when the first cluster was reported in Wuhan (China), the global Novel COronaVIrus Disease 2019 (COVID-19) cases significantly increased, and on 12<sup>th</sup> March 2020, the WHO Director declared the disease as pandemic.<br />As of April 28<sup>th</sup> 2020, 2.982,688 cases and 210,193 deaths were reported globally.<br />The aim of this article is the analysis of the main epidemiological characteristics of the current pandemic: transmission, basic reproduction number (R0), incubation period, global, European and Italian confirmed cases and deaths, focusing on the paediatric population.<br /> Giorgia Casti Pier Paolo Bassareo Marco Limone Filippo Pistolesi Vassilios Fanos Maria Antonietta Marcialis Copyright (c) 2020-05-20 2020-05-20 9 2 e090203 e090203 10.7363/090203 Trends in respiratory management and morbidities of very preterm or very low birth weight infants from 2000 to 2013: results from a Portuguese tertiary level Neonatal Intensive Care Unit <p><strong>Summary:</strong> Considerable progress has been made regarding children’s morbidity and mortality. Nonetheless, recent developments have been insufficient to meet set targets. This study aims to evaluate trends and outcomes in respiratory management following a 14-year collaboration with the Vermont Oxford Network (VON).<br /><strong>Methods:</strong> Data were collected prospectively at a Level III NICU in the North of Portugal and submitted to the VON between 2000 and 2013. The primary outcome was bronchopulmonary dysplasia (BPD). Pneumothorax and respiratory distress syndrome were secondary outcomes. <br /><strong>Results:</strong> A total of 323 very low birth weight infants hospitalised in our centre met the inclusion criteria. Significant changes were observed with supplemental oxygen use and endotracheal intubation decreasing, whilst surfactant use rose. Conventional ventilation techniques at any time were used less often. No differences in the rates of BPD were observed.<br /><strong>Conclusion:</strong> A review of current practice has led to a more cautious approach, privileging less invasive ventilatory techniques and pondered oxygen supplementation, albeit with no significant improvement in the evaluated respiratory outcomes.</p> Rui Pinto-Lopes Sara Abreu-Pereira Gustavo Rocha Filipa Flor-de-Lima Carina Rodrigues Gorett Silva M. Beatriz Guedes Hercília Guimarães Copyright (c) 2020 © Hygeia Press 2020-09-16 2020-09-16 9 2 e090215 e090215 10.7363/090215 Impact of acute cardiovascular collapse on cerebral electrical activity: importance of heart-brain interaction A preterm infant experienced pericardial tamponade due to a deep central line. During the event the patient was on neurological monitoring, ampli­tude integrated electroencephalogram (aEEG), which demonstrated abnormal baseline activity during the point of cardiovascular collapse with improvement once intervention occurred with pericardiocentesis. The case highlights the value of neurological monitoring in acute hemodynamic instability. Kristin L. Riley Heidi M. Harmon Brady A. Thomas Adrianne R. Bischoff Regan E. Giesinger Patrick J. McNamara Copyright (c) 2020-05-27 2020-05-27 9 2 e090205 e090205 10.7363/090205 Venous thrombosis in a 36-day-old infant with transposition of the great arteries and supraventricular tachycardia Pediatric venous thromboembolism (VTE), although uncommon, can lead to serious morbidity and mortality. Cyanotic congenital heart diseases are one of the most common causes of VTE in children, especially when it is associated with other risk factors for thrombosis.<br />We therefore report a case of right femoral vein thrombosis in a 36-day-old infant with transposition of the great arteries who had supraventricular tachycardia and bronchopneumonia.<br /> Rand Abdul Haleem Almuhyi Copyright (c) 2020-05-31 2020-05-31 9 2 e090204 e090204 10.7363/090204 Vein of Galen malformation: prenatal diagnosis, postnatal monitoring and treatment <p>Vein of Galen aneurysmal malformation (VGAM) is a very rare congenital vascular malformation. Also known as the “median prosencephalic arteriovenous fistula”, VGAM is a subtype of dural arteriovenous fistula. It is believed that the development of VGAM occurs between weeks 6 and 11 of embryo development. Prenatal diagnosis is based on fetal ultrasound, between the second and third trimesters. Despite prenatal diagnosis, this congenital malformation is associated with high morbidity and mortality. We report the case of a 38-year-old primigravida referred at 32 weeks of gestational age to our Prenatal Diagnosis Unit for a suspected VGAM. The remaining fetal assessment was normal. At 38 weeks, a male newborn weighing 3,825 g was born. The postnatal evaluation confirmed VGAM. Endovascular treatment was performed at 4 and 5 months, without complications. The patient is currently 9 months old and has a normal neurodevelopment.</p> Francisca Calheiros-Trigo Alexandra Cadilhe João Reis Nicole Silva Almerinda Pereira Copyright (c) 2020 © Hygeia Press 2020-09-16 2020-09-16 9 2 e090217 e090217 10.7363/090217 Neonatal femoral artery thrombosis at the time of birth: a case report <p>Neonatal thrombosis is a relatively common disease/condition and most often associated with predisposing genetic factors, underlying medical disorders and acquired trigger factors, such as iatrogenic interventions. Perinatal femoral artery thrombosis with no underlying risk factors has not been presented in the international literature. There has been no evidence of perinatal artery thrombosis with no underlying risk factors in the international literature.<br />In this case presentation, a neonate was born via normal vaginal delivery at 39<sup>+4</sup> weeks of gestation, in an otherwise uncomplicated pregnancy without risk factors, with marked discoloration of right lower abdomen and right lower limb, initially pale and eventually evolving to cyanotic. At the time of birth, such clinical presentation was a challenge to clinicians regarding diagnosis. The absence of right-sided palpable femoral pulses raised suspicion and led to a diagnostic approach primarily including ultrasonography.<br />A right femoral blood clot blocking blood flow and resulting in the pale right lower limb was revealed via Doppler ultrasound. Screening test for thrombophilia was negative and neonatal arterial patency was achieved after administration of Low Molecular Weight Heparin (LMWH). After a 6-week course of treatment, vascular latency was fully restored and confirmed by ultrasound on day 10 post-partum. Clinicians should be aware of this unusual event that can be detrimental and endanger limb survival if immediate further action is not taken. Neonatal thrombosis can occur even at the time of birth; thus, clinicians should be alert in cases of neonates born with pale extremities. Low-risk cases could still pose a great threat to the survival of an extremity if appropriate action is not taken.</p> Orestis Tsonis Thodoris Gouvias Fani Gkrozou Ioanna Antonopoulou Anastasia Giantsouli Minas Paschopoulos Maria Baltogianni Copyright (c) 2020 © Hygeia Press 2020-09-08 2020-09-08 9 2 e090214 e090214 10.7363/090214 Spontaneous depressed skull fracture in a neonate <p>The most common cause of neonatal skull fracture is trauma from instruments used during an assisted birth. In the literature, there are limited reports of neonatal depressed skull fractures (DSF) in the absence of birth trauma. The diagnosis is based on clinical and radiological findings. We present the case of a female neonate, born full-term after a eutocic delivery. The pregnancy was unremarkable. There was no history of trauma during pregnancy or delivery. At birth, a congenital depression in the right parietal region was noted. Head computed tomography revealed a right parietal depressed fracture, without underlying brain lesion. Surgical elevation was performed with favourable outcome. There were no complications. The patient is currently 9 months old and has a normal neurodevelopment.</p> Francisca Calheiros-Trigo Maria João Machado Rui Almeida Nicole Silva Almerinda Pereira Copyright (c) 2020 © Hygeia Press 2020-09-10 2020-09-10 9 2 e090216 e090216 10.7363/090216