Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.

Background: Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neonatal presentation, such as characteristic facial anomalies with senile appearance, arthrogryposis, and campto-arachnodactyly, is fundamental for performing an early cardiological examination.

Occult Serious Bacterial Infections in Neonates and Infants Up to Three Months of Age with Bronchiolitis: Are Invasive Cultures Required?

(1) Background: The literature reports a low risk of serious bacterial infections (SBIs) in febrile infants presenting with bronchiolitis or respiratory syncytial virus infection, but current microbiological techniques have a higher accuracy. (2) Methods: We assessed the risk of SBIs in neonates and infants with bronchiolitis from 2021 to 2023. We also evaluated C-reactive protein, procalcitonin, and leukocyte values.

Coagulation profiles and percentiles in neonates with hypoxic-ischemic encephalopathy undergoing therapeutic hypothermia: A step toward more accurate transfusion thresholds.

Background: In the literature, there are no studies about the transfusion threshold for neonates with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia (TH). In order to facilitate accurate interpretation of coagulation results in these neonates, we aimed to generate specific reference intervals in this specific population.

Methods: This retrospective study included all HIE neonates admitted from 2014 to 2022 to undergo TH.

Are lung ultrasound features more severe in infants with bronchiolitis and coinfections?

Background: The lung ultrasound (LUS) score can be a useful tool to predict the need for respiratory support and the length of hospital stay in infants with bronchiolitis.

Objective: To compare lung ultrasound features in neonates and infants up to three months of age with bronchiolitis to determine whether LUS scores (range 0-36) differ in infants with coinfections or not.

Methods: Neonates and infants younger than three months admitted to neonatal units from October 2022 to March 2023, who underwent lung ultrasound evaluation on admission, were included in this retrospective study.

Early vasopressin infusion improves oxygenation in infants with congenital diaphragmatic hernia.

Objective: Congenital Diaphragmatic Hernia (CDH) is a complex disease including a diaphragmatic defect, lung hypoplasia, and pulmonary hypertension. Despite its increasing use in neonates, the literature on the use of vasopressin in neonates is limited. The aim of this work is to analyze the changes in clinical and hemodynamic variables in a cohort of CDH infants treated with vasopressin.

Reference Intervals for Coagulation Parameters in Developmental Hemostasis from Infancy to Adolescence.

: The objective of this study was to establish the age and sex-dependent reference intervals for coagulation assays evaluated in healthy children, ranging from 0 days to 16 years old. : PT, aPTT, Fibrinogen (functional), Antithrombin activity, Protein C anticoagulant activity, Protein S free antigen, Thrombin time, D-Dimer, Von Willebrand Factor antigen, Lupus anticoagulant (screening), extrinsic and intrinsic pathway factors, and activated Protein C resistance were evaluated using STA-R Max. : A total of 1280 subjects (671 males and 609 females) were divided into five groups, according to their age: 0-15 days (n = 280, 174 M and 106 F), 15-30 days (n = 208, 101 M and 107 F), 1-6 months (n = 369, 178 M and 191 F), 6-12 months (n = 214, 110 M and 104 F), and 1-16 years (n = 209, 108 M and 101 F).

Neonatal acute liver failure due to enteroviruses: a 14 years single NICU experience.

Neonatal acute liver failure (ALF) is a severe condition with a mortality rate up to 70%. Human enterovirus (HEV) infections are associated with serious diseases in newborns, including myocarditis, meningoencephalitis and, more rarely, ALF with a fulminant course. Cases of neonatal-onset ALF were identified using the institutional clinical database.

Propofol and fentanyl sedation for laser treatment of retinopathy of prematurity to avoid intubation.

Background: Despite the optimization of neonatal assistance, severe retinopathy of prematurity (ROP, stage III-IV) remains a common condition among preterm infants. Laser photocoagulation usually requires general anesthesia and intubation, but extubation can be difficult and these infants often affected by chronic lung disease. We retrospectively evaluated the clinical charts of 13 neonates that were sedated with propofol in association with fentanyl for the laser treatment of ROP.

Kabuki syndrome: clinical and molecular diagnosis in the first year of life.

Objective: To review the clinical and molecular genetic characteristics of 16 patients presenting a suspected diagnosis of Kabuki syndrome (KS) in the first year of life, to evaluate the clinical handles leading to a prompt diagnosis of KS in newborns. Clinical diagnosis of KS can be challenging during the first year of life, as many diagnostic features become evident only in subsequent years.

Methods: All patients were clinically investigated by trained clinical geneticists.

Comparison of regional vs. systemic analgesia for post-thoracotomy care in infants.

Background: In infants, post-thoracotomy analgesia traditionally consists of systemic opiates, while regional techniques have gained more favor in recent years. We compare the two techniques for thoracotomy in infants.

Methods: All consecutive patients below 6 months of age who underwent thoracotomy for congenital pulmonary malformations in the study period were retrospectively divided according to the chosen postoperative analgesia: Group S systemic opiates, Group R continuous regional (epidural or extrapleural paravertebral) block.

Dendritic cells modification during sublingual immunotherapy in children with allergic symptoms to house dust mites.

Background: the importance of dendritic cells (DCs) in the initiation of the Th2-mediated inflammatory response to allergens is well known and more recently it has been proposed that DCs have a pivotal role in maintaining tolerance to allergens. The aim of this study was to investigate whether the success of sublingual immunotherapy (SLIT) in allergic asthma is mediated by the induction of changes of DCs functions.

Methods: ten children with allergic asthma sensitive to house dust mite were studied before and after 12 months of SLIT.

Cobalamin C defect presenting as severe neonatal hyperammonemia.

Unlabelled: Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism which causes a block in the pathway responsible for the synthesis of its two metabolically active forms methyl- and adenosylcobalamin. Cbl-C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. The clinical presentation of patients with early-onset Cbl-C defect, characterized by a multisystem disease with severe neurological, ocular, hematological, renal, gastrointestinal, cardiac, and pulmonary manifestations, differs considerably from what observed in the "classical" form of methylmalonic aciduria caused by defect of methylmalonyl-CoA mutase.