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.

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.