Congenital syphilis: the re-emergence of a forgotten disease.

A preterm newborn presented at birth with generalised oedema, disseminated bullous and desquamative exanthema with palmoplantar involvement and hepatomegaly, admitted to the neonatal intensive care unit with severe multisystemic disease, haemodynamic instability and respiratory distress. The mother had a history of treated latent syphilis before pregnancy. Venereal Disease Research Laboratory screening was negative in the first trimester, titre 1:2 in second trimester and 1:32 in the third trimester, a result only available to the medical team at birth. The mother's rapid plasma reagin (RPR) titre was 1:64 at birth. The newbon's RPR titre was 1:256, confirming the diagnosis of early congenital syphilis. The newborn was treated with aqueous penicillin G, with clinical and laboratorial progressive recovery. Congenital syphilis is a preventable disease, but despite prenatal screening programmes, it remains a significant public health issue worldwide with high morbidity and mortality.

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.

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.

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.

[Turner syndrome. From child to adult... A multidisciplinary approach]. / Sindroma de Turner. Da criança ao adulto Uma abordagem multidisciplinar.

Turner syndrome is one of the most frequent chromosome disorders in clinical practice. It is characterized by a multisystemic involvement, responsible for a high morbidity and an increased mortality at all ages. Therefore it is essential that there is a continuous and integrated approach in reference centers to improve the quality of life and prevent early mortality. There has been a growing interest in the scientific community to achieve these goals, with the publication of clinical guidelines. This article intends to review these guidelines, with particular emphasis on a multidisciplinary care of these patients from the age of diagnosis and throughout their adult life.

[Endovascular thrombolysis for massive cerebral venous thrombosis in a teenager with nephrotic syndrome]. / Trombose venosa cerebral maciça submetida a trombólise endovascular num adolescente com síndrome nefrótica.

Cerebral venous thrombosis is a rare but potentially severe condition in children. We present the case of a teenager with corticodependent nephrotic syndrome diagnosed at five months of age and treated with cyclosporine A. In the context of recurrence of nephrotic syndrome he presented with headache, vomiting and severe intracranial hypertension. While the raised intracranial pressure and the status epilepticus were controlled, the brain imaging revealed venous thrombosis of all venous sinus, with absence of venous drainage. He was submitted to local thrombolysis with recombinant tissue plasminogen activator, with recanalization of the venous sinuses. The outcome was favourable, without neurological deficits. In this case, the early radiologic intervention was crucial, enabling a full neurological recovery, in a teenager whose initial prognosis was very poor.