Journal of Pediatric and Neonatal Individualized Medicine (JPNIM) 2022-12-05T17:32:22+01:00 JPNIM Staff Open Journal Systems <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> Selected Abstracts of the 12th International Congress of UENPS; Krakow (Poland); September 2nd-4th, 2022 2022-12-05T17:32:22+01:00 --- Various Authors <p><strong>Selected Abstracts of the 12<sup>th</sup> International Congress of UENPS; Krakow (Poland); September 2<sup>nd</sup>-4<sup>th</sup>, 2022&nbsp;</strong></p> <p>The Congress has been organized by the Union of European Neonatal and Perinatal Societies (UENPS).&nbsp;</p> <p>&nbsp;</p> <p><strong>ABS 1. OUTCOMES OF DIAPHRAGMATIC HERNIA PATIENTS WITH AND WITHOUT FETOSCOPIC ENDOLUMINAL TRACHEAL OCCLUSION (FETO) – A SINGLE-CENTRE RETROSPECTIVE STUDY</strong> •&nbsp;A. Adamiec, A. Nieradka, M. Jaskólska, J. Schreiber-Zamora, B. Kociszewska-Najman (Warsaw, Poland)&nbsp;</p> <p><strong>ABS 2. </strong><strong>PROTECTIVE EFFECTS OF CAPSAICIN ON IBOTENATE-INDUCED NEONATAL EXCI­TOTOXIC BRAIN DAMAGE AND NEURO­INFLAMMATION</strong> • Y. Baranoglu Kilinc, M. Dilek, E. Kilinc, I.E. Torun, A. Saylan, S. Erdogan Duzcu (Bolu, Turkey)&nbsp;</p> <p><strong>ABS 3. </strong><strong>ADJUVANT THERAPY WITH A FRAGMENT OF RECOMBINANT SURFACTANT PROTEIN D IMPROVES LUNG COMPLIANCE AND REDUCES LEVELS OF PRO-INFLAMMATORY CYTOKINES IN VENTILATED PRETERM LAMBS</strong> • R. Bhatt, M. Baroudi, A. Finkielsztein, M. Kemp, B. Kramer, N. Marlow, J. Madsen, H. Clark (London, United Kingdom; Perth, Australia; Maastricht, The Netherlands)&nbsp;</p> <p><strong>ABS 4. </strong><strong>DERMAL BILIRUBIN IN CAUCASIAN NEWBORN INFANTS WITHIN THE FIRST 4 DAYS OF LIFE</strong> • L. Casnocha Lucanova, J. Zibolenova, K. Matasova Jr., K. Matasova, M. Zibolen (Martin, Slovakia)&nbsp;</p> <p><strong>ABS 5. </strong><strong>PREDICTORS OF ABNORMAL NEUROIMAGING RESULTS IN NEWBORNS WITH CONGENITAL CMV INFECTION (cCMV)</strong> •&nbsp;J. Czech-Kowalska, D. Jedlińska-Pijanowska, A. Pleskaczyńska, A. Niezgoda, K. Gradowska, A. Pietrzyk, E. Jurkiewicz, M. Jaworski, B. Kasztelewicz (Warsaw, Poland)&nbsp;</p> <p><strong>ABS 6. </strong><strong>RISK OF NECROTIZING ENTEROCOLITIS AND ENTERAL FEEDING STRATEGY IN THE CHILDREN’S CLINICAL UNIVERSITY HOSPITAL (RIGA, LATVIA) FROM THE 1<sup>ST</sup> OF JANUARY 2016 TO THE 31<sup>ST</sup> OF DECEMBER 2020</strong> • D. Dakica, A. Smildzere (Riga, Latvia)&nbsp;</p> <p><strong>ABS 7. </strong><strong>OUTBREAK OF NOSOCOMIAL SEPSIS IN NICU</strong> <strong>BY MULTIDRUG-RESISTANT </strong><em><strong>KLEBSIELLA PNEUMONIAE</strong></em><strong> – DIAGNOSTIC CHALLENGES</strong> •&nbsp;P. Gatseva, V. Atanasova, S. Porov, Z. Yordanov (Pleven, Bulgaria)&nbsp;</p> <p><strong>ABS 8. </strong><strong>PREDICTIVE MARKERS FOR BRONCHO­PULMONARY DYSPLASIA IN NONINVASIVELY OBTAINED AMNIOTIC FLUID IN PRETERM NEONATES</strong> • V. Gulbiniene, G. Balciuniene, R. Viliene, I. Dumalakiene, I. Pilypiene, D. Ramasauskaite (Vilnius, Lithuania)&nbsp;</p> <p><strong>ABS 9. </strong><strong>PRETERM GESTATION AND LOW BIRTH WEIGHT – IMPACT ON RESPIRATORY SYSTEM</strong> •&nbsp;E. Kandelaki, N. Solomonia, N. Kavlashvili, M. Kherkheulidze (Tbilisi, Georgia)&nbsp;</p> <p><strong>ABS 10. </strong><strong>ASSESSMENT OF PAIN AND DISCOMFORT DURING LESS INVASIVE SURFACTANT ADMINISTRATION (LISA) UNDER NON-PHARMACOLOGICAL ANALGESIA</strong> • K. Klebermaß-Schrehof, K. Pichler, B. Kühne, S. Stummer, A. Berger, A. Kribs, J. Dekker (Vienna, Austria; Cologne, Germany; Leiden, The Netherlands)&nbsp;</p> <p><strong>ABS 11. </strong><strong>A NOVEL POINT-OF-CARE ULTRASOUND APPROACH FOR THE DETERMINATION OF ENDOTRACHEAL TUBE DEPTH IN NEONATES</strong> •&nbsp;O. Levkovitz, D. Schujovitzky, R. Stackievicz, P. Fayoux, I. Morag, I. Litmanovitz, S. Arnon, S. Bauer (Kfar Saba, Zrifin, and Tel Aviv, Israel; Lille, France)&nbsp;</p> <p><strong>ABS 12. </strong><strong>END-OF-LIFE CARE PRACTICES ACROSS POR­TUGUESE NEONATAL UNITS</strong> • C. Liz, E. Proença, C. Carvalho (Porto, Portugal)&nbsp;</p> <p><strong>ABS 13. </strong><em><strong>LIMOSILACTOBACILLUS REUTERI DSM 17938</strong></em><strong> IN THE PREVENTION OF FUNCTIONAL GASTROINTESTINAL DISORDERS IN NEO­NATES TREATED WITH ANTIBIOTICS: A RANDOMIZED CONTROLLED TRIAL</strong> • J. Lozar Krivec, G. Nosan, P. Bratina, P. Nabergoj, A. Valcl, E. Benedik, T. Obermajer, B. Bogovič Matijašić, U. Šetina, A. Mahnič, D. Paro-Panjan (Ljubljana,&nbsp;Postojna, Slovenj Gradec, Domžale, and Maribor, Slovenia)&nbsp;</p> <p><strong>ABS 14. </strong><strong>ANTENATAL STEROID TREATMENT AND BRAIN DEVELOPMENT IN VLBW INFANTS</strong> • M. Malova, A. Parodi, P. Massirio, D. Minghetti, M. Severino, D. Tortora, C. Traggiai, D. Preiti, S. Uccella, L. Nobili, A. Rossi, L.A. Ramenghi (Genoa, Italy)&nbsp;</p> <p><strong>ABS 15. </strong><strong>FACTORS AFFECTING THE DURATION OF MECHANICAL VENTILATION IN VERY LOW BIRTH WEIGHT INFANTS</strong> • A. Menshykova, D. Dobryanskyy (Lviv, Ukraine)&nbsp;</p> <p><strong>ABS 16. </strong><strong>THE CORRELATION BETWEEN THE PATHO­LOGICAL UMBILICAL ARTERY DOPPLER FINDINGS AND NEONATAL MORBIDITY OF PRETERM NEWBORNS WITH INTRAUTERINE GROWTH RESTRICTION</strong> • D. Mitrovic, A. Ristivojevic, S. Sindjic, N. Smiljanic, A. Matic, Z. Grujic, G. Ivanov, N. Stasuk (Novi Sad and Belgrade, Serbia)&nbsp;</p> <p><strong>ABS 17. </strong><strong>INTRATRACHEAL ADMINISTRATION OF SUR­FACTANT COMBINED WITH BUDESONIDE TO PREVENT BRONCHOPULMONARY DYS­PLASIA IN VERY LOW BIRTH WEIGHT PREMATURE NEWBORN</strong> • P.J. Ostia Garza, E.C. Reyes Miranda, D. Paniagua Villalobos, L. Padilla Martinez (Monterrey, Toluca, and Puebla, Mexico)&nbsp;</p> <p><strong>ABS 18. </strong><strong>CLINICAL OUTCOMES OF VERY LOW BIRTH WEIGHT INFANTS AFTER IMPLEMENTATION OF A FAMILY INTEGRATED CARE CLINICAL PATHWAY – A MATCHED CASE-CONTROL STUDY</strong> • R. Pricoco, S. Mayer-Huber, J. Paulick, F. Benstetter, M. Zeller, M. Keller (Munich, Rosenheim, and Passau, Germany)&nbsp;</p> <p><strong>ABS 19. </strong><strong>ABNORMAL RETINAL VASCULAR MOR­PHOLOGY IN PRETERM NEONATES WITH IN­TRAUTERINE GROWTH RESTRICTION</strong> •&nbsp;D. Rallis, P. Zafeiropoulos, E. Christou, M. Baltogianni, N. Dermitzaki, C. Asproudis, I. Asproudis, V. Giapros (Ioannina, Greece)&nbsp;</p> <p><strong>ABS 20. </strong><strong>ASSOCIATION BETWEEN BREASTFEEDING DURATION, MATERNAL SOCIOECONOMIC STATUS AND INFANT WEIGHT GAIN</strong> •&nbsp;J. Šarac, D. Havaš Auguštin, N. Novokmet, S. Missoni (Zagreb, Croatia)&nbsp;</p> <p><strong>ABS 21. </strong><strong>SUDDEN INFANT DEATH SYNDROME – LINK WITH MATERNAL KNOWLEDGE</strong> • L. Suciu, M. Cucerea, M. Simon (Tirgu Mures, Romania)&nbsp;</p> <p><strong>ABS 22. </strong><strong>PARENTAL PARTICIPATION IN THEIR INFANTS’ PROCEDURAL PAIN ALLEVIATION WITH NON-PHARMACOLOGICAL METHODS IN ESTONIA</strong> • A. Treiman-Kiveste, M.K. Kangasniemi, R. Kalda, T. Pölkki (Tartu, Estonia;&nbsp;Turku and Oulu, Finland)&nbsp;</p> <p><strong>ABS 23. </strong><strong>EFFECTS OF MILKING OF CUT UMBILICAL CORD IN VERY PRETERM NEONATES: A RANDOMIZED CONTROLLED TRIAL IN SOUTHERN INDIA</strong> • M. Varanattu Chellappan, D. Divakaran, N. George, S. Ayyasamy, V. Paulraj, A. Reddy Paidy, N. Johnson, P.R. Varghese, U.G. Unnikrishnan, M. Vellore, P.E.L. Lofi, K.N. Maya, D. Martin, J. James (Thrissur, India)&nbsp;</p> 2022-12-06T00:00:00+01:00 Copyright (c) 2022 © Hygeia Press Prenatal risk factors for selected congenital anomalies development: a case-control pilot study in postpartum women from Argentina 2022-05-29T12:19:00+02:00 Carlina Leila Colussi Nora Racigh Gisela Laura Poletta María Fernanda Simoniello <p class="p1"><strong>Introduction:</strong> Congenital anomalies (CAs) are abnormalities in intrauterine development and are one of the main causes of burden disease, especially in low- and middle-income countries. Many environmental and maternal risk factors could lead to these pathologies. The aim of this study was to identify different types of CAs, determine their frequency and identify their possible association with maternal sociodemographic and lifestyle risk factors among patients from Santa Fe Province, Argentina.<span class="Apple-converted-space"> </span></p> <p class="p1"><strong>Material and methods:</strong> An observational cases and control pilot study was conducted in 2018 and 2019 on 280 postpartum mothers of newborn babies with any CA (cases, n = 64) and without a CA (controls, n = 216) attending public hospitals. A face-to-face questionnaire was completed, and clinical histories were required to obtain information on maternal sociodemographic factors, gynecological events, health state, lifestyle habits and child diagnoses.<span class="Apple-converted-space"> </span></p> <p class="p1"><strong>Results:</strong> Polymalphormations and neural tube defects were the most frequent CA observed. Differences between cases and control groups, as well as between places of residence, were given by gestational age, type of delivery and newborn birth weight, all of which are preventable variables. A slight association between maternal diabetes and the occurrence of cases was found.<span class="Apple-converted-space"> </span></p> <p class="p1"><strong>Discussion:</strong> Maternal place of origin is a factor of inequity in terms of gynecology variables which describes a deeper background in sanitary reality from Santa Fe Province that would have a large impact on future adults born preterm. The results highlight the necessity of generating both sanitary tools for maternal-child health policies and environmental evaluations, which remains a permanent challenge of the Argentine public health system.</p> 2023-01-05T00:00:00+01:00 Copyright (c) 2023 © Hygeia Press The Evaluation of Digital Health: paediatric assessment for exposition to Digital Media 2022-07-04T18:47:08+02:00 Luca Pisano Osama Al Jamal Michela Sanna Laura Concas Gesuina Cherchi Antonella Boi Marinella Ariu Pierpaolo Mascia Giorgio Marras Irene Urrai Domenico Galimi <p class="p1">Recent studies have shown the possible negative effects of children’s early exposure to digital content with particular reference to screen time. In fact, excessive use of Digital Media (DM) can have important repercussions on development, learning and the quality of family life. In addition, Internet-connected devices represent the key to accessing digital subculture, the content of which can have a negative impact on children’s psychological and physical development. Given the impact of DM and in particular of “digital subculture” on children, pre-adolescents and adolescents, we <span class="s1">propose to broaden the concept of health by including not only the biological,</span> psychological and social dimensions but also the digital dimension and thus the relationship with digital devices. In this work, we introduce the concept of “Digital Health” (DH), which refers to the well-being of all individuals, in particular of subjects of developmental age, exposed to digital devices, and we provide paediatricians with a new health procedure, called “Evaluation of Digital Health” (EDH). The EDH, aimed at assessing the digital habits, screen time and digital content viewed by the child, is carried out during periodic check-ups. In fact, we believe that paediatricians have a fundamental role in the protection of all-round health, including DH. The EDH would enable paediatricians, who follow growth from birth to adolescence, to prevent and/or promptly pick up on the signs of any risky digital behaviour displayed by parents and their children. From this perspective, the paediatrician may lead to the manifestation of appropriate digital behaviours, thus representing the first DH promotion service and fostering the development of digital awareness in the family.</p> 2022-12-09T00:00:00+01:00 Copyright (c) 2022 © Hygeia Press Intraventricular hemorrhage in preterm infants: risk factors and neurodevelopmental outcomes 2021-02-19T09:38:19+01:00 Joana Soares Reis Isabel Ayres Pereira Joana Lira Joana Silva Márcia Gonçalves Jacinto Torres Joana Grenha <p class="p1"><strong>Introduction: </strong>Germinal matrix hemorrhage-intraventricular hemorrhage <span class="s1">(GMH-IVH) is the most common form of intracranial hemorrhage in preterm infants. We evaluated risk factors for GMH-IVH in preterm infants born before 32 weeks of gestational age. Secondary outcomes included the characterization of neurodevelopmental (ND) prognosis at 24-36 months of corrected age.</span></p> <p class="p1"><span class="s1"><strong>Methods:</strong> We included infants admitted to our Neonatal Intensive Care Unit between May 2011 and January 2017. A total of 161 infants were enrolled, divided into the GMH-IVH group (n = 40) and control group (n = 121). A secondary cohort included the follow-up group (n = 124) at 24-36 months of corrected age. The association of GMH-IVH with risk factors and ND outcomes was investigated.</span></p> <p class="p1"><span class="s1"><strong>Results:</strong> The incidence of GMH-IVH was 24.8%. Significant risk factors for GMH-IVH were exposure to any resuscitation in the Delivery Room (adjusted odds ratio [aOR]: 34.1; 95% confidence interval [CI] 1.8-657.5) and a low Apgar score at 5 minutes of life (aOR: 0.4; 95% CI: 0.2-0.9). The incidence of retinopathy of prematurity was significantly higher in the grade I GMH-IVH (p &lt; 0.001) group. Gross motor and locomotion dysfunction were significantly more frequent in the GMH-IVH group (24.1% vs. 4.4%; p = 0.004) as was auditory and language dysfunction (24.1% vs. 7.8%; p = 0.040). GMH-IVH was independently associated with visual impairment (aOR: 21.6; 95% CI: 3.2-145.0).<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1"><strong>Conclusions:</strong> Lower Apgar score at 5 minutes of life and any resuscitation were independent risk factors for GMH-IVH. GMH-IVH was associated with higher ND morbidity. ND prognosis of grade II GMH-IVH was comparable to grade III GMH-IVH.</span></p> 2023-01-16T00:00:00+01:00 Copyright (c) 2023 © Hygeia Press Incidence of Kinsbourne syndrome in patients diagnosed with neuroblastic tumors: a single-center experience and review of literature 2021-07-15T15:27:09+02:00 Katarzyna Kuchalska Monika Barełkowska Anna Gotz-Więckowska Katarzyna Derwich <p class="p1"><span class="s1">Kinsbourne syndrome or opsoclonus-myoclonus syndrome (OMS), also called dancing feet syndrome, manifests in opsoclonus, myoclonus, and ataxia. It occurs more frequently in pediatric patients, and around 50% of cases are caused by neuroblastoma (NBL). This investigation aimed to determine the incidence of OMS in children diagnosed with neuroblastic tumors. Data collected from 2004 to 2019 at the Department of Pediatric Oncology, Hematology, and Transplantology of Pozna</span><span class="s2">ń</span><span class="s1"> University of Medical Sciences (Pozna</span><span class="s2">ń</span><span class="s1">, Poland) were analyzed. The research group included 119 patients under 18 years of age. There were only 3 cases (2.52%) of OMS in the research group, all younger than 3 years. The tumor was localized in the adrenal gland in 1 patient and paravertebrally in the other 2. The presented symptoms included nystagmus, balance disturbances, and tremors. All cases of OMS in children require imaging to determine whether it is caused by NBL. However, among patients with NBL, OMS is a rare manifestation.</span></p> 2022-12-28T00:00:00+01:00 Copyright (c) 2022 © Hygeia Press Neurodevelopmental outcomes of premature infants born at ≤ 32 weeks of gestational age with post-hemorrhagic hydrocephalus treated with ventriculoperitoneal shunt 2021-07-09T15:40:01+02:00 Ana Rita Neves Ana Vilan Henrique Soares Sara Almeida Hercília Guimarães <p class="p1"><strong>Introduction:</strong> In preterm newborns, post-hemorrhagic hydrocephalus (PHH) can lead to changes in development. There is no consensus on its treatment yet. The aim of this study is to evaluate the neurodevelopmental outcomes in preterm newborns with PHH treated with ventriculoperitoneal shunt (VPS).</p> <p class="p1"><strong>Materials and methods:</strong> We evaluated all cases with ≤ 32 weeks gestational age who developed PHH and were treated with VPS between January 2007 and December 2017. An assessment of neurodevelopmental outcomes was made through their medical records at 3 years of age.</p> <p class="p1"><strong>Results:</strong> Cerebral palsy (CP) was the most registered pathology (68.8%), followed by epilepsy (43.8%). No cases of bilateral deafness, use of hearing aids or total blindness were documented. Six (37.5%) of the children wore glasses. Regarding the Griffiths Mental Development Scales, 4 (50%) had General Quotient score corresponding to developmental delay. Delay was mostly observed in the Locomotor Scale (75%), followed by Eye and Hand Coordination Scale (62.5%) and Hearing and Speech Scale (50%). Practical Reasoning Scale (37.5%) and Personal-Social Scale (12.5%) had the lowest number of cases with delay.</p> <p class="p1"><strong>Discussion:</strong> The results obtained were consistent with previous studies. The pathophysiology of brain injury in these children is multifactorial and the findings might be related to pressure effects of hydrocephalus and parenchymal injury.<span class="Apple-converted-space"> </span></p> <p class="p1"><strong>Conclusion:</strong> CP, epilepsy and developmental delay may have a higher risk of developing in infants where VPS was used. No cases of hearing impairment were found, which may indicate that this pathology is not related to the use of VPS. Infants treated with VPS for PHH represent a high-risk group for the development of adverse neurodevelopment outcomes.</p> 2023-01-23T00:00:00+01:00 Copyright (c) 2023 © Hygeia Press Airway foreign bodies in infants younger than 6 months: a referral center experience 2021-08-19T13:08:02+02:00 Mohammad Ashkan Moslehi <p class="p1"><span class="s1"><strong>Background:</strong> Although the most common age for foreign body (FB) aspiration (FBA) is considered from 1 to 4 years old, it can even happen earlier.<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1"><strong>Aim:</strong> The purpose of this study is to evaluate the occurrence of FBA in 6-month infants and younger.</span></p> <p class="p1"><span class="s1"><strong>Material and methods:</strong> This study is a retrospective analysis of all the cases of FBA in infants under 6 months admitted to Namazi Hospital in Shiraz, Iran, and who underwent flexible fiberoptic bronchoscopy from September 2017 to March 2019.<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1"><strong>Results:</strong> Medical records of 38 infants under 6 months of age who underwent flexible fiberoptic bronchoscopy with a diagnosis of FBA were reviewed retrospectively. 71.1% of the infants were male. History regarding prematurity was positive in 63.2% of the neonates. 55.3% had different degrees of tooth eruption. Sudden-onset cough (97.4%), noisy breathing (92.1%), and cyanotic spells (52.6%) were the 3 most common reported symptoms before hospitalization. Most (73.7%) aspirations occurred in the presence of parents or caregivers. 7.9% of the infants had normal radiographic results. Only 21.1% of the patients were diagnosed and managed within 24 hours after the aspiration. The most common aspirated FBs were organic objects.<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1"><strong>Conclusion:</strong> Although FBA is more common in older children, it can also occur in infants younger than 6 months. Families, and especially physicians, should be fully informed of the possibility of aspiration at an early age, which can reduce the occurrence of FBA and its irreversible effects.</span></p> 2022-12-07T00:00:00+01:00 Copyright (c) 2022 © Hygeia Press Isolated leukopenia in children and adolescents referred to a Pediatric Hematology Clinic 2021-07-20T15:35:48+02:00 Francesco Saettini Sonia Bonanomi Simona Orlandi Andrea Biondi Adriana Balduzzi Tiziana Coliva <p class="p1"><span class="s1"><strong>Aim:</strong> Pediatric isolated leukopenia (IL) includes multiple conditions but data to guide evaluation of children and adolescents are scarce. The aim of this study was to investigate the underlying diagnoses of IL in a cohort of children and adolescents referred to our Clinic.<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1"><strong>Methods:</strong> Retrospective analysis of 134 consecutive patients with IL, evaluated and followed-up in a Pediatric Hematology Outpatient Clinic. First-level investigations included complete blood count (CBC) with differential, mean corpuscular volume (MCV), and fetal hemoglobin.<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1"><strong>Results:</strong> IL resolved in 50 subjects (37.3%). Seventy-two children (53.7%) were classified as having idiopathic leukopenia. Resolution was less likely if patients presented with more than 1 abnormality at first-level hematological investigations at the time of referral. Molecular analyses identified potential disease-causing variants in 6.7% of the patients. Autoimmune disorders (</span><span class="s2">AID)</span><span class="s1"> and clinical primary immunodeficiencies (c</span><span class="s2">PID)</span><span class="s1"> were common (10.4% and 9.7%, respectively). Five patients (3.7%) ultimately developed a myelodysplastic syndrome (MDS). Patients with monocytopenia and increased MCV had higher risk of developing MDS (p = 0.0002 and p = 0.0001, respectively).<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1"><strong>Conclusions:</strong> In case of recent infection without monocytopenia, increased MCV or multiple CBC abnormalities, post-infectious IL is frequent and white blood cells (WBC) fully recover. A consistent number of patients had underlying AID or cPID. Whenever leukopenia persists beyond 12 months, molecular analyses should be performed and a clonal hematopoietic disorder should be excluded.<span class="Apple-converted-space"> </span></span></p> 2022-12-21T00:00:00+01:00 Copyright (c) 2022 © Hygeia Press Severe congenital thrombocytopenia and platelet dysfunction due to novel WAS gene mutation: case report 2021-11-29T16:23:47+01:00 Darjan Kardum Borna Biljan Marijana Arambašić <p class="p1"><span class="s1">Wiskott-Aldrich syndrome (WAS), X-linked thrombocytopenia, and X-linked congenital neutropenia collectively are designated WAS-related disorders. All are attributable to pathogenic variants of the WAS protein (WASp) and present a broad spectrum of hematopoietic cellular defects that chiefly involve platelets and lymphocytes. Pathogenic mutations in the <em>WAS</em> gene (located at Xp11.22-23) are implicated, affecting 12 exons.</span></p> <p class="p1"><span class="s1">Herein, we describe a neonate with congenital thrombocytopenia and platelet dysfunction due to a novel c.1500_1504dup (p.Asp502Gly) variant of the <em>WAS</em> gene. This mutation produces a frameshift, with substitution of aspartic acid for glycine at position 502 of the protein, and causes a downstream stop-loss codon. Clinically, the infant displayed severe thrombocytopenia and thrombasthenia, in the absence of other WAS-related traits (i.e., immune deficiency, eczema). Once a multigene panel analysis was complete, conditioning and then successful hematopoietic stem-cell transplantation took place at the age of 8 months. This case highlights the importance of genetic testing in instances where other diagnostics prove inconclusive.</span></p> 2022-12-07T00:00:00+01:00 Copyright (c) 2022 © Hygeia Press Severe congenital syphilis as cause of unexpected prematurity: 2 case reports and recommended management 2022-12-04T16:52:10+01:00 Sofia Soares Baptista Inês Pereira Coelho Daniel Tiago Vera Santos Marta Soares Luisa Gaspar João Rosa <p class="p1"><span class="s1">Epidemiologic data suggest an increasing incidence of congenital syphilis (CS) in developed countries in recent years. Fetal infection by <em>Treponema pallidum </em>can cause a wide spectrum of clinical manifestations, including stillbirth and prematurity. The physician should always consider infections caused by toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, and other agents (TORCH) when facing a severely ill preterm neonate.</span></p> <p class="p1"><span class="s1">The authors describe 2 very similar cases of severe CS in preterm newborns, both of whom were admitted to the Neonatal Intensive Care Unit. At birth, in addition to severe respiratory distress needing invasive ventilation, the neonates presented with ascites, hepatosplenomegaly, and hydrocele. The preliminary evaluation revealed anemia and thrombocytopenia, which required aggressive transfusion support. Increased inflammatory parameters and cholestasis were also noted. Based on the clinical signs and analytic alterations, TORCH infections were suspected. An investigation was conducted and both neonates had treponemal and non-treponemal positive tests. Both mothers had reactive serologies at the time of delivery, which was previously unknown. Other viral and bacterial infections were excluded. Ultrasonograms of the brains were unremarkable. Ophthalmologic, audiologic, and bone screenings were negative. The neonates received a course of treatment with aqueous crystalline penicillin G for 14 days, and had good outcomes.<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1">The diagnosis of CS can be difficult because most infants are asymptomatic at birth and rarely present with severe disease, as shown by our cases. To make a correct diagnosis, it is important to compare treponemal and non-treponemal tests from the mother and newborn because serologies are difficult to interpret.<span class="Apple-converted-space"> </span></span></p> <p class="p1"><span class="s1">The cases described herein are a reminder of the importance of screening and treatment for these infections during pregnancy and at the time of delivery. It is essential to prioritize health investments in screening programs and to allocate specialized healthcare staff so that syphilis can be treated earlier in the population of reproductive age.</span></p> 2023-01-20T00:00:00+01:00 Copyright (c) 2023 © Hygeia Press