Journal of mother and child最新文献

{"title":"Position Statement of the Polish Academy of Sciences' Committee of Human Nutrition Science on the Principles for the Nutrition of Preschool Children (4-6 Years of Age) and Early School-Age Children (7-9 Years of Age).","authors":"Halina Weker, Mariola Friedrich, Katarzyna Zabłocka-Słowińska, Joanna Sadowska, Anna Długosz, Jadwiga Hamułka, Jadwiga Charzewska, Piotr Socha, Lidia Wądołowska","doi":"10.34763/jmotherandchild.20232701.d-23-00094","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00094","url":null,"abstract":"","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"222-245"},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10875211/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139900999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of Fibrin Glue in the Treatment of Persistent Pneumothorax in Premature Infants at the Limit of Viability: Ethical Issues and Two and A Half Years Follow-Up.","authors":"Magdalena Rutkowska, Martyna Woynarowska, Iwona Terczyńska, Małgorzata Seroczyńska, Dariusz Mydlak, Jarosław Mądzik, Ewa Nowakowska, Katarzyna Niepokój, Sławomir Szczepaniak, Krystyna Polak","doi":"10.34763/jmotherandchild.20232701.d-23-00061","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00061","url":null,"abstract":"<p><strong>Introduction: </strong>Due to the extreme immaturity of many internal organs, including lungs, infants at the limit of viability are more predisposed to a pneumothorax (PTX). In some cases, PTX becomes persistent. Previously, only a few attempts of PTX treatment with fibrin glue were reported. However, its impact on further lung development is unknown.</p><p><strong>Case report: </strong>We present a case of an extremely preterm infant with persistent PTX who was successfully treated with fibrin glue. In addition, we present a two-and-a-half-year corrected age follow-up focusing on respiratory problems, motor development and sensory organs. Furthermore, we touch upon the related ethical issues.</p><p><strong>Conclusions: </strong>Fibrin glue should be used to treat persistent PTX even in an extremely preterm infant. No adverse effects were observed. At the two-and-a-half-year corrected age follow-up, despite severe bronchopulmonary dysplasia development, no serious pulmonary problems were observed. However, the child's development is uncertain. This situation raises important ethical issues concerning saving the lives of infants at the limit of viability.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"190-197"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Mental Health Implications of Obstetric Brachial Plexus Injuries (OBPI) on Parents.","authors":"Catherine Miller, Karan Dua, Nathan N O'Hara, Catherine C May, Joshua M Abzug","doi":"10.34763/jmotherandchild.20232701.d-23-00024","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00024","url":null,"abstract":"<p><strong>Background: </strong>Obstetric brachial plexus injuries (OBPI) can have mental health implications on parents coping with this injury to their newborn. The purpose of this study was to assess the mental health of mothers with newborns with an OBPI and identify resources that can help screen and treat mental health needs.</p><p><strong>Material and methods: </strong>Three groups of mothers were prospectively given a self-reported survey: 1) Newborns with OBPI; 2) Newborns in the nursery without OBPI; 3) Newborns in the neonatal intensive care unit (NICU). The survey consisted of demographic questions, the PHQ-9 and PCL-S screening tools, and parents' exposure to community violence, family support and use of drugs or alcohol.</p><p><strong>Results: </strong>Fifty-seven mothers were prospectively enrolled, and 30% (17/57) of mothers screened in for post-traumatic stress disorder (PTSD). OBPI mothers had significantly higher rates of PTSD symptoms when compared to mothers of children in the full-term nursery (difference = 36.4%; p < 0.01). No statistically significant difference was found between groups regarding depression symptoms.</p><p><strong>Conclusions: </strong>OBPI can be very difficult to cope with for parents and family members. Forty-two percent of mothers with newborns with OBPI or children in the NICU screened in for PTSD symptoms. OBPI clinics should be staffed similarly to the NICU with clinical social workers to appropriately screen and treat parents with PTSD and depression symptoms.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"217-221"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reduced Endothelial Progenitor Cells: A Possible Biomarker for Idiopathic Fetal Growth Restriction in Human Pregnancies.","authors":"Apurva Singh, Shyam Pyari Jaiswar, Apala Priyadarshini, Sujata Deo","doi":"10.34763/jmotherandchild.20232701.d-23-00014","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00014","url":null,"abstract":"<p><strong>Background: </strong>Circulating endothelial progenitor cells (EPCs) may be necessary throughout pregnancy by ensuring proper placentation and embryonic growth. The lack of standardized EPC quantification techniques has prevented conclusive proof of an increase in EPC during pregnancy.</p><p><strong>Objectives: </strong>The purpose of this study was to determine whether EPC levels change for healthy and idiopathic fetal growth restriction (FGR) pregnancies.</p><p><strong>Materials and methods: </strong>The study population consisted of 48 healthy pregnant females with no previous history of IUGR (10 in the first trimester, 15 in the second, and 23 in the third), 48 women with pregnancy complicated by idiopathic FGR, and 15 non-pregnant women. By using flow cytometry, EPCs in maternal blood were recognized as CD45dim/CD34/KDR cells. ELISA was used to measure plasmatic cytokines.</p><p><strong>Results: </strong>We ascertained a progressive rise in EPCs in healthy pregnancies that was apparent in the first but more pronounced in the third trimester. At comparable gestational ages, FGR-complicated pregnancies had impaired EPC growth. Placental growth factor and stromal-derived factor-1 levels in the blood were significantly lower in FGR than in healthy pregnancies, which may have contributed to the degradation of the EPCs.</p><p><strong>Conclusion: </strong>The count in EPCs might hold considerable promise toward developing a peculiar authentication marker for observing pregnancies, and could be the focus of cutting-edge tactics for the prognosis and treatment of FGR pregnancies.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"182-189"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of Maternal Preferred Language with Breastfeeding Attitudes, Intentions, and Knowledge.","authors":"Lincoln Ferguson, Alexandra Chervonsky, Joshua Fogel, Allan J Jacobs","doi":"10.34763/jmotherandchild.20232701.d-23-00026","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00026","url":null,"abstract":"<p><strong>Introduction: </strong>Assessing intentions, attitudes, and knowledge about breastfeeding among different language groups is important because the languages reflect cultural differences. We compared attitudes, subjective norms, perceived behavioural control, intentions, and knowledge of breastfeeding among mothers with the five most common preferred languages spoken at a New York City hospital.</p><p><strong>Materials and methods: </strong>This cross-sectional study surveyed women (n = 448) in the prenatal clinic and the post-partum unit of a New York City hospital. The survey questions were about breastfeeding attitudes, subjective norms, perceived behavioural control, and intentions, based on the Theory of Planned Behavior. We also administered the Iowa Infant Feeding and Attitude Scale and measured the knowledge of the mothers about breastfeeding. The preferred language spoken by the mother was the main predictor variable. English, Russian, Spanish, Urdu, and Uzbek were the languages studied.</p><p><strong>Results: </strong>Multivariate linear regression analyses showed that Russian (B = 2.24, SE = 1.09, p = 0.04), Urdu (B = 2.90, SE = 1.45, p = 0.046), and Uzbek (B = 4.21, SE = 1.35, p = 0.002) speakers all had significantly more positive attitudes toward breastfeeding than did English speakers. Spanish and English language speakers did not differ from each other in their attitudes towards breastfeeding. The language groups did not differ significantly for subjective norms, perceived behavioural control, intention to breastfeed, the Iowa Infant Feeding and Attitude Scale, nor in knowledge regarding breastfeeding.</p><p><strong>Conclusions: </strong>Urdu, Uzbek, and Russian speakers had significantly more positive attitudes towards breastfeeding than did English speakers. To the extent that preferred language is a proxy for culture, clinicians can use this parameter as a basis for directing approaches toward lactation education.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"209-216"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anthropometric Measurements of Singleton Live Full-Term Newborns in Comparison to Who Standard at University of Gondar Comprehensive Specialised Hospital, Ethiopia.","authors":"Natnael Amare Tesfa, Anteneh Mengist Dessie, Denekew Tenaw Anley, Melkamu Aderajew Zemene, Natnael Atnafu Gebeyehu, Getachew Asmare Adella, Gizachew Ambaw Kassie, Misganaw Asmamaw Mengstie, Mohammed Abdu Seid, Endeshaw Chekol Abebe, Molalegn Mesele Gesese, Wubet Alebachew Bayih, Yenealem Solomon Kebede, Berihun Bantie, Tadesse Asmamaw Dejenie, Ermiyas Sisay Chanie, Sefineh Fenta Feleke","doi":"10.34763/jmotherandchild.20232701.d-23-00043","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00043","url":null,"abstract":"<p><strong>Background: </strong>Anthropometry is a universally applicable, non-expensive, rapid and noninvasive technique used to evaluate and reflect the nutritional status of an individual. Anthropometric measurements of newborns reflect their general health, nutritional status and future survival by tracking trends in growth and development over time. It has also considerable significance in terms of determining the risk of death and extra uterine complications. Most previously conducted studies assessing newborn anthropometry had used birth weight as the sole parameter. But it is apparent that other anthropometric measurements, such as length and head circumference, are also important in predicting short-term and long-term outcomes. So this study assesses anthropometric measurements of singleton live full-term newborns at University of Gondar comprehensive specialised hospital, Ethiopia.</p><p><strong>Material and methods: </strong>Hospital-based cross-sectional study was conducted among 333 newborn from 5 June to 11 July 2022, in the maternity and neonatal ward of University of Gondar comprehensive specialised hospital. A systematic random sampling technique was employed to select the study participants. The Kobo toolbox software platform was used for data collection, and STATA software version 16 was used for analysis.</p><p><strong>Results: </strong>The mean birth weight, length and head circumference of the newborns in the current study were 2977 grams (95% CI: 2935.7, 3018.3), 47.05 centimeters (95% CI: 46.72-47.37) and 34.7 centimeters (95% CI: 34.6, 34.88), respectively. The prevalence of SGA (< 10th percentile) and LGA (> 90th percentile) was 20.12% and 6.01%, respectively. Independent samples t-test was done to see the association of newborn sex with anthropometric indices, and the result showed that the difference was statistically insignificant in all of anthropometric parameters.</p><p><strong>Conclusion: </strong>This study of normal reference values will provide basic step for future standardisation of Ethiopian term newborns anthropometric parameters to be used for accurate assessment of newborns.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"198-208"},"PeriodicalIF":0.0,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10680122/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is There Still a Place for Forceps Delivery in Modern Obstetrics?","authors":"Katarzyna Zając, Małgorzata Rybnik, Marcin Kęsiak, Jarosław Kalinka","doi":"10.34763/jmotherandchild.20232701.d-23-00057","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00057","url":null,"abstract":"<p><strong>Background: </strong>Nowadays, we are witnessing a decrease of vaginal instrumental deliveries and continuous increase of caesarean section rate. However, proper identification of possibility of execution, indications for instrumental delivery and their skilful use may improve the broadly understood maternal and neonatal outcomes. The aim of this study is to present prevalence, risk factors, indications and outcomes of forceps deliveries among the patients at Department of Perinatology, Lodz.</p><p><strong>Material and methods: </strong>A retrospective study was conducted at the Department of Perinatology, Medical University of Lodz. The study included forceps deliveries carried out between January 2019 and December 2022. Total number of 147 cases were analysed in terms of indications for forceps delivery and maternal and neonatal outcomes such as vaginal - or cervical - laceration, postpartum haemorrhage, perineal tear, newborn injuries, Apgar score, umbilical cord blood gas analysis, NICU admission and cranial ultrasound scans.</p><p><strong>Results: </strong>The prevalence of forceps delivery was 2.2%. The most common indication for forceps delivery was foetal distress (81.6%). Among mothers, the most frequent complication was vaginal laceration (40.1%). Third-and fourth-degree perineal tears were not noted. Regarding neonatal outcomes, Apgar score ≥ 8 after 1st and 5th minute of life received accordingly 91.2% and 98% of newborns. Only 8.8% experienced severe birth injuries (subperiosteal haematoma, clavicle fracture).</p><p><strong>Conclusions: </strong>Although foetal distress is the most common indication for forceps delivery, the vast majority of newborns were born in good condition and did not require admission to NICU. Taking into consideration high efficacy and low risk of neonatal and maternal complications, forceps should remain in modern obstetrics.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"176-181"},"PeriodicalIF":0.0,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Involvement of Neonatal Intensive Care Unit and Other Perinatal Factors in Postpartum PTSD After Cesarean Section.","authors":"Eirini Orovou, Panagiotis Eskitzis, Irina Mrvoljak-Theodoropoulou, Maria Tzitiridou-Chatzopoulou, Christiana Arampatzi, Nikolaos Rigas, Ermioni Palaska, Maria Dagla, Maria Iliadou, Evangelia Antoniou","doi":"10.34763/jmotherandchild.20232701.d-23-00056","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00056","url":null,"abstract":"<p><strong>Background: </strong>The experience of a neonate hospitalised in the Neonatal Intensive Care Unit (NICU) is an understandably traumatic experience for the parents, especially, for the mothers of neonates. This mental distress resulting from preterm birth and/or NICU hospitalisation can be understood as post-traumatic symptomatology, according to the Diagnostic and Statistical Manual-5 version. The aim of this study is to investigate the impact of the admission of a neonate to the NICU (from any reason) on the development of postpartum post-traumatic stress disorder (PTSD) in a sample of women after cesarean sections.</p><p><strong>Material and methods: </strong>A total of 469 women who gave birth with cesarean section from July 2019 to June 2020 participated in this study, from the original sample of 490 women who consented to participate. Data were obtained from the researcher's socio-demographic questionnaire, the past traumatic Life Events Checklist, the perinatal stressor Criterion A, and the Post-Traumatic Stress Checklist from the Diagnostic and Statistical Manual-5 version.</p><p><strong>Results: </strong>A percentage of 46.64% of sample experienced postpartum PTSD. Factors associated with PTSD were placenta previa type4, abruption, bleeding (β = .07, p = .049), premature contractions (β = .08, p = .039), heavy medical history or previous gynecological history and preeclampsia (β = .08, p = .034), abnormal heart rate, premature rupture of membrane, premature contractions, infections (β = .14, p = .004), life of child in danger (β = .12, p = .025), complications involving child (β = .15, p = .002), complications involving both (child and mother) (β = .12, p = .011), traumatic cesarean section (β = .041, p < .001) and prematurity (β = .12, p = .022).</p><p><strong>Conclusions: </strong>Additional measures must be taken for mothers of children who have been admitted to the NICU with psychological support interventions and reassessment of their mental state.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"158-167"},"PeriodicalIF":0.0,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Placental Findings in Infants Gestational Age < 34 Weeks and Impact on Short-Term Outcomes.","authors":"Krešimir Šantić, Borna Biljan, Martina Kos, Ivana Serdarušić, Jasmina Rajc, Darjan Kardum","doi":"10.34763/jmotherandchild.20222601.d-23-00017","DOIUrl":"10.34763/jmotherandchild.20222601.d-23-00017","url":null,"abstract":"<p><strong>Aim: </strong>To analyse placental changes in infants' gestational age < 34 weeks and its correlation to short-term respiratory outcomes or death until hospital discharge.</p><p><strong>Material and methods: </strong>Information regarding all in-house born preterm infants born before 34 weeks gestation and born from January 2009 until December 2014 were collected and included among others, placental pathology and relevant data on demographics and outcomes of infants.</p><p><strong>Results: </strong>Placental abnormalities was found in 157/253 (65.05%) cases. Acute placental inflammation was found to be the most common in both groups of premature neonates, followed by maternal vascular underperfusion. Maternal vascular underperfusion was significantly more common in GA ≤ 27 weeks compared to infants GA 28-33 weeks (35.2% vs. 13.7%; p = 0.018). Similarly, chronic placental inflammation was more common in infants GA ≤ 27 weeks compared to infants GA 28-33 weeks (14.3% vs. 3.3%; p = 0.014). Infants with placental pathology had a lower median birth weight (1460g vs. 1754g; p = 0.001, and were of shorter median GA at birth (31 vs. 32; p = 0.001). Infants with any placental disease had higher rates of death until hospital discharge (10.2% vs. 3.1%; p = 0.039) and higher rates of any stage of bronchopulmonary dysplasia (41.4% vs. 26.0%; p = 0.013). There were no significant differences in mechanical ventilation rates, duration of mechanical ventilation and duration of supplemental oxygen therapy.</p><p><strong>Conclusion: </strong>Identifiable placental abnormalities were found in most infants born < 34 weeks gestation. Placental pathology is associated with increased rates of bronchopulmonary dysplasia and death until hospital discharge.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"168-175"},"PeriodicalIF":0.0,"publicationDate":"2023-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10623114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71429927","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Presentation of Inherited Metabolic Diseases in Newborns Hospitalised in an Intensive Care Unit.","authors":"Catarina Teixeira,&nbsp;Catarina Cordeiro,&nbsp;Carla Pinto,&nbsp;Luísa Diogo","doi":"10.34763/jmotherandchild.20232701.d-23-00021","DOIUrl":"10.34763/jmotherandchild.20232701.d-23-00021","url":null,"abstract":"<p><strong>Background: </strong>The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requiring admission to the paediatric intensive care unit in a Portuguese reference centre for inherited metabolic diseases.</p><p><strong>Material and methods: </strong>An observational study with retrospective data collection was performed, including all newborns with an inherited metabolic disease admitted to the pediatric intensive care unit between June 2011 and June 2022. Three 'pathophysiological' groups were defined: cases due to small molecules, energy deficiency and complex molecules.</p><p><strong>Results: </strong>Twenty newborns, with a median age at admission of 7.5 days, were included. Thirteen (65%) were female, sixteen (80%) had a small molecule disorder, and four (20%) had diseases of energy defects. Neurological manifestations were the most common, with most newborns presenting symptomatically in the first week of life. There was no difference between the groups in neurological, cardiac, and hepatic involvement and shock at presentation. A symptom-free interval was more frequent in patients with small molecule disorders than the others (p=0.01). The main metabolic changes found were altered plasma amino acids (n=13) and organic aciduria (n=10), creatine kinase elevation (n=13), hyperlactatemia (n=12), metabolic acidosis with increased anion gap (n=8) and hyperammonaemia (n=7). Newborn screening of metabolites helped make a diagnosis in 60% of cases. Five newborns died due to multiorgan failure (n=3) or refractory cardiogenic shock (n=1), and in one, therapeutic efforts were limited due to an adverse neurological prognosis.</p><p><strong>Conclusion: </strong>Although the symptoms and signs are often nonspecific, we should suspect inherited metabolic disease when a newborn presents with neurological symptoms after a symptom-free period, however short it might be. Newborns with suspected inherited metabolic disease should be evaluated with simple biochemical tests, and newborn screening should be urgently expanded to start specific treatment earlier, reducing mortality and morbidity.</p>","PeriodicalId":73842,"journal":{"name":"Journal of mother and child","volume":"27 1","pages":"55-63"},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41241824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}