Bronchopulmonary Dysplasia: A Five-Year Retrospective Cohort Study on Differences in Clinical Characteristics and Morbidities According to Severity Grading.

INTRODUCTION: Bronchopulmonary dysplasia (BPD) is the most common complication associated with extreme prematurity. Although several criteria defining severity were developed over time, there are a few studies describing the differences in BPD phenotype and neonatal morbidities and complications between severity groups. We aimed to describe these differences in BPD patients of a neonatal intensive care unit (NICU). METHODS: We conducted an observational retrospective cohort study through a medical record review over a five-year period. Participants were newborns admitted to an NICU who were diagnosed with BPD. We performed a descriptive statistical analysis of gestational complications and the use of antenatal corticosteroid therapy, birth-related data, and complications throughout the NICU stay, as well as the respiratory support used. We also compared different severity groups across these variables. The patients were divided into severe and non-severe BPD using the severity criteria of the 2001 NICHD/NHLBI/ORD consensus workshop. RESULTS: A total of 101 newborns with BPD participated in the study and 73 had data on BPD severity. The median gestational age was 27 weeks, ranging from 23 to 32 weeks. Of these 73 newborns, 36 had mild BPD (49.3%), 10 had moderate BPD (13.7%), and 27 had severe BPD (37.0%). When comparing severe and non-severe BPD, we found that extreme prematurity, extremely low birth weight, and small size for gestational age were more frequent in the severe BPD group (p-value=0.012, p-value<0.001, and p-value=0.012, respectively). Infants with severe BPD had a longer duration of invasive ventilation than those with mild or moderate BPD (p-value<0.001). Late sepsis, necrotizing enterocolitis, severe brain injury, and retinopathy of prematurity were more frequent in severe BPD (p-value=0.017, p-value=0.045, p-value=0.033, p-value=0.003, respectively). DISCUSSION: Previously published evidence describing causal links between BPD development and comorbidities exists but data on their impact on BPD severity are scarce. In our study, severe BPD seemed to be associated with a higher frequency of comorbidities and complications. Further studies are needed to ascertain the impact of each morbidity on the severity of BPD and if measures to prevent them could lead to potentially milder BPD disease.

Pooling Saliva Sample as an Effective Strategy for the Systematic CMV Screening of Newborns-A Multicentric Prospective Study.

BACKGROUND: Cytomegalovirus is the most common cause of congenital infections worldwide. Screening all newborns in the first 2 weeks of life is the only way to detect all cases of congenital infection, allowing the monitoring of children with asymptomatic infection at birth and early intervention. AIM: In this multicenter study, we aimed to evaluate the feasibility of using a saliva pool strategy for mass screening in 7 Portuguese hospitals, and to estimate the current prevalence of this congenital infection in these hospitals. METHODS: A total of 7033 newborns were screened between June 2020 and June 2022, and 704 pools of 10 saliva samples were analyzed by polymerase chain reaction (PCR). RESULTS: Of the 704 pools analyzed, 685 were negative and 19 had positive PCR results for cytomegalovirus. After individual PCR testing, 26 newborns had positive saliva results, of which 15 were confirmed by urine testing. Thus, this study's prevalence of congenital infection was 0.21% (95% confidence interval: 0.12%-0.35%). CONCLUSIONS: In this study, the pooling strategy proved to be effective for the systematic screening of newborns, although this low prevalence raises questions regarding the cost-effectiveness of implementing universal screening. However, this prevalence is probably the result of the control measures taken during the pandemic; therefore, the rates are expected to return to prepandemic values, but only a new study after the pandemic will be able to confirm this.

Lower prevalence of congenital cytomegalovirus infection in Portugal: possible impact of COVID-19 lockdown?

Cytomegalovirus (CMV) is the most frequent cause of congenital infection all over the world. Its prevalence ranges from 0.2 to 2.2%. Transmission from children to their pregnant mothers is a well-known risk factor, particularly if they attend a childcare centre. This study aims to compare the prevalence of CMV congenital infection (CMV_CI) in Portugal (Lisbon) between two studies, performed respectively in 2019 and 2020. In the 2019 study, performed in two hospitals, we found a 0.67% CMV_CI prevalence, using a pool strategy previously tested with saliva samples. In the 2020 study, using the same pool approach in four hospitals (the previous and two additional), and based on 1277 samples, the prevalence was 0.078%.Conclusion: The close temporal coincidence with COVID-19 lockdown suggests that these measures may have had a significant impact on this reduction, although other explanations cannot be ruled-out. What is Known: • Cytomegalovirus is the leading cause of congenital infection. • Behavioural measures decrease cytomegalovirus seroconversion in pregnant women. What is New: • From 2019 to 2020 there was a significant reduction in the prevalence of congenital CMV infection.

Salt Poisoning Due to Inadequate Infant Formula Preparation: A Rare Cause of Hypernatremia and Massive Cerebral Hemorrhage in a Newborn.

Salt poisoning is a rare cause of severe hypernatremia in children resulting from the ingestion of toxic amounts of sodium chloride, either from accidental or intentional administration of salted solutions. We present the case of a newborn admitted to a pediatric emergency department for lethargy and reduced oral intake; his laboratory evaluation showed severe hypernatremia ([Na+] of 174 mmol/L). The infant developed convulsive status epilepticus during treatment. Neuroimaging showed a tetraventricular hemorrhage, a large right-sided parenchymal hemorrhage with midline shift, and several left hemorrhagic foci. Etiologic evaluation for hypernatremia did not reveal a renal or extrarenal source of water loss nor an intercurrent illness to explain the reduced oral intake. A careful review of how the parents prepared the infant formula revealed an error in dosing the ratio of powder/water, resulting in hyperosmolar infant formula. The infant was diagnosed with salt poisoning as the major cause of hypernatremia. After careful correction of hypernatremia and the use of antiseizure medication, the patient improved and was discharged. The parents were given a careful review of instructions for infant formula preparation. Due to its rarity, a high index of suspicion is mandatory for a correct diagnosis of salt poisoning. Timely and adequate treatment is needed due to the high risk of intracerebral bleeding, seizures, and irreversible neurologic injury. Children, particularly newborns and infants, depend upon adults to ingest water and, thus, have more difficulty in maintaining electrolyte balance. Therefore, it is of utmost importance that parents are educated about childcare, particularly on the importance of careful infant formula preparation.

Carbapenemase-Producing Enterobacteriaceae (CPE) Newborn Colonization in a Portuguese Neonatal Intensive Care Unit (NICU): Epidemiology and Infection Prevention and Control Measures.

Infections due to carbapenemase-producing Enterobacterales (CPE) are increasing worldwide and are especially concerning in a neonatal intensive care unit (NICU). Risk factors for CPE gut colonization in neonates need to be clarified. In this work, we describe the epidemiological and clinical features of CPE-colonized newborns and the infection control measures in a Portuguese NICU. We performed a prospective, observational, longitudinal, cohort study for surveillance of CPE colonization. Maternal and neonatal features of colonized newborns and surveillance strategy were described. A statistical analysis was performed with SPSS23.0, and significance was indicated by p-value ≤ 0.05. Between March and November 2019, CPE was isolated in 5.8% of 173 admitted neonates. Carbapenemase-producing Klebsiella pneumoniae were the most frequently isolated. There was no associated infection. Birth weight, gestational age, length of stay, and days of central line were the identified risk factors for CPE colonization (bivariate analysis with Student's t-test or Mann-Whitney U test, according to normality). No independent risk factors for CPE colonization were identified in the logistic regression analysis. CPE colonization risk factors are still to be determined accurately in the neonatal population. Active surveillance and continuous infection control measures restrained the current cluster of colonized newborns and helped to prevent infection and future outbreaks.

Congenital SARS-CoV-2 Infection in a Neonate With Severe Acute Respiratory Syndrome.

Coronavirus disease, caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), is mainly transmitted through droplets, but other ways of transmission have been hypothesized. We report a case of vertical transmission of SARS-CoV-2 in a preterm born to an infected mother, confirmed by the presence of the virus in the neonatal blood, nasopharyngeal and oropharyngeal swabs collected in the first half an hour of life. The neonate presented with acute respiratory distress, similar to the findings in severely affected adults. This case highlights the importance of pregnancy, labor and neonatal period surveillance of affected mothers and their newborns.

Evaluation of saliva pools method for detection of congenital human cytomegalovirus infection.

Human cytomegalovirus (HCMV) is the most frequent cause of congenital infection, leading to long-term sequelae especially sensorineural hearing loss (SNHL). Since 5-15 % of the asymptomatic newborns will develop late sequelae, the implementation of a universal screening would allow the identification of infected children and early intervention. The aim of this study was to validate the use of saliva pools of 10 and 20 samples for the detection of HCMV congenital infection. Four spiking samples (negative saliva matrix added with known concentration of AD169 strain culture supernatant) and a set of 12 saliva samples, collected from newborns with confirmed congenital infection in their first three weeks of life, were tested individually and after dilution in 10 and 20 pools by an "in-house" RT-PCR. Both pool methodologies, 10-pool and 20-pool samples, had 100 % sensitivity and specificity when compared with individual samples. This methodology could allow a cost reduction close to 85 % and 89 %, respectively for the 10-pool and 20-pool approach, when compared with testing each sample individually. This significant reduction may open the possibility to perform the newborn screening for HCMV in a large-scale.

[Metabolic Bone Disease of Prematurity in Very Low Birthweight Infants: Retrospective Observational Study]. / Doença Metabólica Óssea da Prematuridade em Recém-Nascidos de Muito Baixo Peso: Estudo Observacional Retrospetivo.

INTRODUCTION: Metabolic bone disease of prematurity consists in a decrease of bone matrix mineral content, in comparison with the level expected for gestational age. Screening of this condition is based on serum alkaline phosphatase and phosphate levels. The aim of this study is to evaluate the prevalence of metabolic bone disease of prematurity, to assess the aspects associated with a higher risk of this disease and to describe the growth of newborns with birth weight below 1500 g and metabolic bone disease of prematurity. MATERIAL AND METHODS: Observational, retrospective, multicenter and descriptive study in three neonatal intensive care units in Portugal, from May 1st 2016 to April 30th 2017. A convenience sample of very low birthweight newborns was obtained. Demographic, clinical, and laboratory variables were described in newborns with and without metabolic bone disease of prematurity. RESULTS: A total of 53 newborns were included in this study: 30 males, 16 with gestational age ≤ 28 weeks. Five cases of metabolic bone disease of prematurity were diagnosed. In this group, the majority of patients was male and presented a lower gestational age and birth weight, in comparison with the group without metabolic bone disease of prematurity. The average duration of parenteral nutrition was higher in newborns with metabolic bone disease of prematurity and the calcium/phosphate ratio was lower than the recommended values. Growth was similar in both groups. No patient with metabolic bone disease of prematurity underwent physical rehabilitation. DISCUSSION: The prevalence of metabolic bone disease of prematurity was 9.43%, which is lower than what is described in the literature. However, only 50% of newborns completed the screening according to the recommendations. The main risk factors identified concur with the literature. CONCLUSION: Metabolic bone disease of prematurity is a frequent but underdiagnosed comorbidity in very low birthweight newborns. It is essential to screen newborns at risk for this condition, using biochemical markers, as well as structure nutritional interventions and physical stimulation in order to avoid short and long-term consequences of this disease.

Introdução: A doença metabólica óssea da prematuridade consiste numa diminuição da matriz óssea, relativamente ao nível esperado para a idade gestacional. O rastreio baseia-se no doseamento sérico da fosfatase alcalina e fósforo. O objetivo deste estudo é avaliar a prevalência da doença metabólica óssea da prematuridade, analisar os aspetos associados a maior risco para esta doença e descrever o crescimento estaturo-ponderal dos recém-nascidos com peso ao nascer inferior a 1500 g, com doença metabólica óssea da prematuridade. Material e Métodos: Estudo multicêntrico, retrospetivo, observacional e descritivo em três unidades de apoio perinatal diferenciado, entre 1 de maio de 2016 e 30 de abril de 2017; foi obtida uma amostra de conveniência de recém-nascidos com muito baixo peso ao nascer. Descrevem-se as variáveis demográficas, clínicas e laboratoriais dos recém-nascidos com e sem doença metabólica óssea da prematuridade. Resultados: Neste estudo foram incluídos 53 recém-nascidos: 30 do sexo masculino, 16 com idade gestacional ≤ 28 semanas. Foram diagnosticados cinco casos de doença metabólica óssea da prematuridade. Neste grupo, a maioria dos doentes era do sexo masculino e apresentavam idade gestacional e peso ao nascer inferior aos do grupo sem doença metabólica óssea da prematuridade. A duração média de nutrição parentérica foi superior nos recém-nascidos com doença metabólica óssea da prematuridade e a relação cálcio/fósforo utilizada foi inferior às recomendações nacionais. A evolução estaturo-ponderal foi semelhante nos recém-nascidos com e sem doença. Nenhum doente com doença metabólica óssea da prematuridade teve intervenção por medicina física e reabilitação. Discussão: A prevalência de doença metabólica óssea da prematuridade foi de 9,43%, valor inferior ao descrito na literatura. Contudo, apenas 50% dos recém-nascidos cumpriram o rastreio de acordo com as recomendações. Os principais fatores de risco identificados estão de acordo com a literatura. Conclusão: A doença metabólica óssea da prematuridade é uma comorbilidade frequente nos recém-nascidos de muito baixo peso, mas encontra-se subdiagnosticada. É fundamental rastrear os recém-nascidos em risco para esta patologia, utilizando marcadores bioquímicos, assim como estruturar intervenções nutricionais e estimulação física para evitar as consequências da doença a curto e longo prazo.

MYH9-related disorders: a rare cause of neonatal thrombocytopaenia.

Myosin heavy chain 9-related disorders (MYH9RD) are a genetic condition characterised by large platelets and thrombocytopaenia. The May-Hegglin anomaly (MHA), an uncommon condition with a potential risk of bleeding complications once thought to be separate, is now known to be part of MYH9RD.There are very limited data on the clinical course and neonatal/paediatric outcome in children with MHA. We present the case of a newborn with a normal physical examination whose mother had MHA. Peripheral blood examination revealed a platelet count of 16×109/L with giant platelets and neutrophils containing Döhle bodies. Neonatal brain ultrasound examination showed no haemorrhage. The infant received three platelet transfusions during the first 29 days of life, remaining asymptomatic. The genetic molecular test was positive for MYH9RD. It is important to identify at-risk infants with this condition and to initiate therapy to prevent related complications, if needed, in a multidisciplinary team approach.

Cardiac dysfunction and prenatal exposure to venlafaxine.

Venlofaxine, a widely used antidepressant, is known to cause a withdrawal syndrome. We present a case of neonatal transient ventricular dysfunction in a neonate exposed to venlafaxine in utero. Other causes of ventricular dysfunction were excluded. Neonatal ventricular dysfunction can be a possible side effect of maternal use of this drug.

DPG-plus syndrome: new report of a rare entity.

Pituitary gland duplication is a particularly rare finding. Different theories have been proposed to explain its pathogenesis, however, this phenomenon is not yet totally understood. Recently, duplication of the pituitary gland (DPG)-plus syndrome has been described, associating DPG with other blastogenic defects. We present the clinical and imaging findings of a newborn girl with DPG, associated with multiple other midline anomalies, including a nasopharyngeal teratoma, palate cleft deformity, bifid nasal bridge, tongue and uvula, hypoplasia of the basis pontis and corpus callosum, duplication of the basilar artery and hypothalamic hamartoma. We describe our patient's multidisciplinary team approach and emphasise the importance of reporting upcoming cases, in order to give more insight into the understanding of this complex entity.

Long-term follow-up in Stuve-Wiedemann syndrome: a clinical report.

Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype is characterized by progressive skeletal anomalies including short stature, severe spinal deformities, bowing of the long bones, contractures and spontaneous fractures, and by neurological features that resemble dysautonomia. Here we report on the natural history of a Portuguese girl from birth till 12 years. The diagnosis was molecularly confirmed by the detection of a homozygous 4 bp deletion (167_170 del TAAC) in exon 3 of LIFR. We compare the findings in this patient to other patients with prolonged survival from the literature.