Comparison among three lung ultrasound scores used to predict the need for surfactant replacement therapy: a retrospective diagnostic accuracy study in a cohort of preterm infants.

Lung ultrasound (LU) has emerged as the imaging technique of choice for the assessment of neonates with respiratory distress syndrome (RDS) at the bedside. Scoring systems were developed to quantify RDS severity and to predict the need for surfactant administration. There is no data on the comparison of the three main LU scores (LUS) proposed by Brat, Raimondi and Rodriguez-Fanjul. Moreover, there is not enough evidence to recommend which score and which cut-off has the best ability to predict surfactant need. The three LUS were compared in terms of ability to predict the need for surfactant and reproducibility in a cohort of very preterm infants. This was an observational, retrospective, multicenter study. Neonates below 32 weeks of gestational age with RDS, on non-invasive ventilation with a LU performed prior to surfactant administration (1-3 h of life) were included. Brat, Raimondi, and Rodriguez-Fanjul's scores were calculated for each patient. Receiver-operating characteristic (ROC) curve analysis was used to assess the ability to predict surfactant administration. K-Cohen test, Bland-Altman, and intraclass correlation coefficients were used to assess the intra and interobserver variability. Fifty-four preterm infants were enrolled. Brat, Raimondi, and Rodriguez-Fanjul scores showed a strong ability to predict the need for surfactant: the AUCs were 0.85 (95% CI 0.74-0.96), 0.85 (95% CI 0.75-0.96), and 0.79 (95% CI 0.67-0.92), respectively. No significant differences have been found between the AUCs using the DeLong test. Brat and Raimondi's scores had an optimal cut-off value > 8, while the Rodriguez-Fanjul's score > 10. The k-Cohen values of intraobserver agreement for Brat, Raimondi, and Rodriguez-Fanjul's scores were 0.896 (0.698-1.000), 1.000 (1.000-1.000), and 0.922 (0.767-1.000), respectively. The k-Cohen values of interobserver agreement were 0.896 (0.698-1.000), 0.911 (0.741-1.000), and 0.833 (0.612-1.000), respectively.Conclusions: The three LUS had an excellent ability to predict the need for surfactant and an optimal intra and interobserver agreement. The differences found between the three scores are minimal with negligible clinical implications. Since the optimal cut-off value differed, the same score should be used consistently within the same center. What is Known: • Lung ultrasound is a useful bedside imaging tool that should be used in the assessment of neonates with RDS • Scoring systems or lung ultrasound scores allow to quantify the severity of the pulmonary disease and to predict the need for surfactant replacement therapy What is New: • The three lung ultrasound scores by Brat, Raimondi and Rodriguez-Fanjul have an excellent ability to predict the need for surfactant replacement therapy, although with different cut-off values • All three lung ultrasound scores had an excellent intra and interobserver reproducibility.

Symptomatic COVID-19 in Pregnancy: Hospital Cohort Data between May 2020 and April 2021, Risk Factors and Medicolegal Implications.

Pregnancy does not appear to increase susceptibility to SARS-CoV-2 infection, but some physiological changes, such as the reduction of residual functional volumes, elevation of the diaphragm, and impaired cellular immunity, may increase the risk of severe disease and result in a higher risk of complications. The article's primary objective is to evaluate the factors associated with symptomatic COVID-19 disease in pregnancy. The secondary objective is to describe maternal and neonatal outcomes and cases of vertical transmission of the infection. All pregnant women hospitalized with SARS-CoV2 infection were included in a prospective study in the UOC of Obstetrics and Gynecology, AOOR Villa Sofia-Cervello, Palermo, between May 2020 and April 2021. The patients who requested the termination of the pregnancy according to Law 194/78 were excluded. We included 165 pregnancies with a total number of 134 deliveries. Overall, 88.5% of the patients were asymptomatic at the time of admission and 11.5% were symptomatic. Of them, 1.8% of the patients required hospital admission in the intensive care unit. Symptoms occurrences were positively associated with the increase in maternal BMI (OR 1.17; p = 0.002), the prematurity (OR 4.71; p = 0.022), and at a lower birth weight (OR 0.99; p = 0.007). One infant tested positive for SARS-CoV2 nasopharyngeal swab; 11.4% of newborns had IgG anti SARS-CoV2 at birth; IgM was positive in 2.4% of newborns. There was no difference statistically significant difference in the vertical transmission of the infection among the group of symptomatic pregnant women and that of asymptomatic pregnant women.

Acute hemorrhagic edema of infancy (AHEI): Alarming cutaneous presentation of a benign and self-limited disease.

Acute hemorrhagic edema of infancy (AHEI) is a cutaneous leukocytoclastic vasculitis. We report on an 11-month-old boy, presenting the classical feature of AHEI with alarming cutaneous presentation, but good clinical condition. Early recognition is crucial to avoid unnecessary medical investigations or therapies, as well as to identify potentially severe complications.

Impact of Aortic Diameter Measurements at Three Anatomical Landmarks on Left Ventricular Output Calculation in Neonates.

OBJECTIVES: To assess reproducibility and accuracy of left ventricular output (LVO) quantifications in neonates, when left ventricular outflow tract diameter (LVOTD) was measured at the hinges of the aortic valve (AV), at the aortic sinus (AS), and at the sinotubular junction (STJ). METHODS: This was an observational study. In the first cohort of very preterm neonates, we assessed intraobserver and interobserver repeatability of LVOTD measured at the AV, AS, and STJ and of the corresponding LVO. In the second cohort of older neonates, we compared paired LVO measurements by echo and magnetic resonance imaging (MRI). RESULTS: In the first cohort of 48 neonates, mean (standard deviation) weight and age at scan were 1046 (302) g and 28.1 (2.7) weeks. Interobserver bias (95% limits of agreement [LOA]) for LVOTD at the AV, AS, and STJ was 0 (-0.3 to 0.3) mm, 0 (-0.7 to 0.7) mm, and 0 (-0.8 to 0.7) mm, respectively. Interobserver bias (95% LOA) for the corresponding LVO was -1.3 (-31 to 33) ml/kg/min, -0.5 (-88 to 87) ml/kg/min, and -7.2 (-83 to 69) ml/kg/min, respectively. In the second cohort of 10 neonates, median (range) weight and age at scan were 1942 (970-3640) g and 37.2 (31.7-39.8) weeks. LVO measured at the AV showed stronger agreement with MRI: bias (LOA) -10.6 (-74 to 52) ml/kg/min, compared to LVO measured at AS and STJ: 194 (-0.5 to 388) ml/kg/min and 43 (-72 to 159) ml/kg/min respectively. CONCLUSIONS: Reproducibility and accuracy of LVO quantification by echo were better when aortic diameter was measured at AV.

First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

BACKGROUND: Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood. Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis. CASE PRESENTATION: We report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significance (VUS) c.1142G > C (p.Gly381Ala) in the EDA gene, located on the X chromosome and inherited from the healthy mother. CONCLUSION: Despite the potential functional impact of VUS remains uncharacterized, our goal is to evaluate the clinical potential consequences of missense VUS on EDA gene. Even if the proband's phenotype is characteristic for classic HED, further reports of patients with same clinical phenotype and the same genomic variant are needed to consider this novel VUS as responsible for the development of HED.

Esophageal atresia in newborns: a wide spectrum from the isolated forms to a full VACTERL phenotype?

BACKGROUND: VATER association was first described in 1972 by Quan and Smith as an acronym which identifies a non-random co-occurrence of Vertebral anomalies, Anal atresia, Tracheoesophageal fistula and/or Esophageal atresia, Radial dysplasia. It is even possible to find out Cardiovascular, Renal and Limb anomalies and the acronym VACTERL was adopted, also, embodying Vascular, as single umbilical artery, and external genitalia anomalies. METHODS: Data on patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) admitted in the Neonatal Intensive Care Unit (NICU) between January 2003 and January 2013 were evaluated for the contingent occurrence of typical VACTERL anomalies (VACTERL-type) and non tipical VACTERL anomalies (non-VACTERL-type). The inclusion criterion was the presence of EA with or without TEF plus two or more of the following additional malformations: vertebral defects, anal atresia, cardiovascular defects, renal anomalies and lower limb deformities, like radial dysplasia. RESULTS: Among 52 patients with EA/TEF, 20 (38,4%) had isolated EA and 7 (21,8%) had a recognized etiology such a syndrome and therefore were excluded. Among 32 infants with EA and associated malformations, 15 (46,8%) had VACTERL association. The most common anomalies were congenital heart defects (73,3%), followed by vertebral anomalies (66,6%). Many patients also had additional non-VACTERL-type defects. Single umbilical artery was the most common one followed by nervous system abnormalities and anomalies of toes. Between the groups of infants with VACTERL type and non-VACTERL-type anomalies, there are several overlapping data regarding both the tipically described spectrum and the most frequently reported non-VACTERL-type malformations. Thus, it is possible to differentiate infants with a full phenotype (VACTERL full phenotype) and patients that do not meet all the criteria mentioned above, but with some homologies with the first group (VACTERL partial phenotype). CONCLUSION: The high frequency of non-VACTERL-type anomalies encountered in full and partial phenotype patients would suggest the need for an extension of the clinical criteria for the diagnosis of VACTERL association and also for pre- and post-operative management and follow-up in the short and long term.