Endocrinologic Dysfunctions and Neuropsychiatric Sequelae in Pediatric Patients With a History of Central Nervous System Infection (ENDLESS): A Prospective Monocentric Study.

Introduction: Central nervous system (CNS) infections represent some of the most critical pediatric health challenges, characterized by high mortality rates and a notable risk of long-term complications. Despite their significance, standardized guidelines for endocrinological follow-up of CNS infection survivors are lacking, leading to reliance on the expertise of individual centers and clinicians.

Materials And Methods: Prospective monocentric observational study conducted at the Fondazione Policlinico Universitario Agostino Gemelli in Rome, Italy.

Clinical predictors for surfactant retreatment in preterm infants with respiratory distress syndrome: the results of a pooled analysis.

Background: The issue of retreatment with surfactant of infants with respiratory distress syndrome (RDS) has been poorly investigated. Our aim was to identify possible clinical predictors of the need for multiple doses of surfactant in a large cohort of very preterm infants.

Methods: Data were analyzed from three previous studies on infants born between 25 and 31 weeks of gestation with RDS who were treated with surfactant.

Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.

Introduction: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous monogenic autoinflammatory disorder classified as an 'interferonopathy'. Nine genes have been implicated in AGS, encoding proteins involved in nucleic acid clearance, repair, sensing, or histone pre-mRNA processing. Dysregulation in these pathways leads to excessive type I interferon production, the primary driver of the disease.

A case report of hepatic inflammatory myofibroblastic tumor in a pediatric patient: diagnostic challenges and management strategies.

Purpose: The aim of this study is to present a case of inflammatory myofibroblastic tumor (IMT) of the liver in a 4-year-old girl. We will discuss the diagnostic challenges, the role of the radiologist in differential diagnosis, treatment modalities, and clinical outcomes.

Methods: A case report of a 4-year-old girl with IMT of the liver is presented.

High Risk of HPV Related Preneoplastic and Neoplastic Vulvar Lesions in Women Living With HIV.

Objective: We aimed to investigate the epidemiology of human papilloma virus (HPV)-related preneoplastic and neoplastic vulvar lesions in a large cohort of women living with HIV (WLWH).

Materials And Methods: We retrospectively selected 1,796 WLWH who had a gynecological examination, cervical cytology, high-risk (HR-) HPV test, vulvoscopy, and colposcopy with targeted biopsies when necessary between 1987 and 2020 at 2 Italian institutions. Univariable and multivariable regression analyses were carried out to test the association of the anamnestic and clinical data with the development of precancerous and cancerous lesions.

Efficacy of core biopsies for diagnosing inflammatory myofibroblastic tumors in pediatric patients: case series from a single tertiary referral center.

Background: Inflammatory myofibroblastic tumors (IMTs) are rare, often non-metastasizing neoplasms characterized by fibro/myofibroblastic spindle cells with varying infiltrates of plasma cells, lymphocytes, and/or eosinophils. Despite their generally indolent nature, IMTs can exhibit locally aggressive behavior and a significant tendency for local recurrence, making complete surgical resection the standard treatment approach. Accurate diagnosis can be challenging due to the overlap in imaging features with more aggressive tumors, necessitating preoperative biopsies to enable differential diagnosis and guide treatment decisions.

Rare forms of hypomyelination and delayed myelination.

Hypomyelination is defined by the evidence of an unchanged pattern of deficient myelination on two MRIs performed at least 6 months apart in a child older than 1 year. When the temporal criteria are not fulfilled, and the follow-up MRI shows a progression of the myelination even if still not adequate for age, hypomyelination is excluded and the pattern is instead consistent with delayed myelination. This can be mild and nonspecific in some cases, while in other cases there is a severe delay that in the first disease stages could be difficult to differentiate from hypomyelination.

Effect of different tube feeding methods on gastroesophageal reflux features in preterm infants: a pH-impedance monitoring study.

Unlabelled: A stepwise approach is currently considered the best choice to manage gastroesophageal reflux (GER) in preterm infants. This study aimed to evaluate the effect of different tube feeding techniques on GER frequency and features in symptomatic tube-fed preterm neonates. Tube-fed infants < 34 weeks' gestation were eligible for this prospective, bicentric, cross-over study if, due to GER symptoms, they underwent a diagnostic 24-h combined pH and multiple intraluminal impedance (pH-MII) monitoring.

Mastication and oral myofunctional status in excess weight children and adolescents: A cross-sectional observational study.

Background: Masticatory function seems to play a role in the aetiology of obesity. However, literature on the association between oral myofunctional status and overweight and obesity in children and adolescents is scarce and contrasting.

Objective: To compare masticatory performance, orofacial myofunctional status and tongue strength and endurance between children and adolescents with overweight and obesity and those with normal weight.

Sex-Related Differences in Cardiovascular Risk in Adolescents with Overweight or Obesity.

Background: Pediatric obesity is closely associated with cardiometabolic comorbidities, but the role of sex in this relationship is less investigated. We aimed to evaluate sex-related differences on cardiometabolic risk factors and preclinical signs of target organ damage in adolescents with overweight/obesity (OW/OB).

Methods: The main cross-sectional study included 988 adolescents (510 boys and 478 girls) with OW/OB aged 10-18 years.

Abdominal imaging in precocious puberty in girls: can imaging determine onset of puberty?

Precocious puberty in girls is defined by the appearance of secondary sex characteristics before the age of 8 years. Precocious puberty is either peripheral or central. In most cases, the cause of central precocious puberty is unknown.

Long-COVID symptom monitoring: Insights from a two-year telemedicine study.

Background: The diverse manifestations of Long-COVID have become increasingly important due to their significant impact on patients' lives. Telemedicine has emerged as an important tool for post COVID-19 follow-up. This study is part of a large cohort study involving COVID-positive patients monitored by the COD19 telemedicine platform operations center.

Ultrasound features of cutaneous myiasis: a rare case in a child.

Cutaneous myiasis is an infestation of the skin with larvae of some dipteran species. Among humans, Dermatobia hominis is the most frequently encountered dipteran responsible for cutaneous myiasis. This insect is endemic to tropical and subtropical regions, consequently, individuals travelling from non-endemic areas are most susceptible to infection due to a lack of prior exposure.

Venous malformations in children: comparison between magnetic resonance imaging and histopathological findings.

Background: Among low-flow vascular malformations, venous malformations are relatively frequent. The pathological patterns vary in severity and are generally characterized by dilated vessels and low-flow blood that over time can organize into phleboliths. Sometimes small capillary and/or lymphatic vessels may be associated, micro- and/or macro-shunts may form alone or in different combinations, and finally adipose tissue may be interposed between the malformed vessels.

Minimal Access in Pediatric Surgery: An Overview on Progress towards Dedicated Instrument Developments and Anesthesiologic Advances to Enhance Safe Completion of Procedures.

Surgical techniques are evolving in Pediatric Surgery, especially in the area of minimal access surgery (MAS) where indications for applications are expanding. Miniaturization of instruments, using natural orifices, single incisions, or remotely controlled robot-assisted procedures, promises to increase the benefits of MAS procedures in pediatrics. Many pediatric pathologies are rare, and specialized surgical and anesthesiologic instruments are necessary to manage them, defined as "orphan devices", for which development and dissemination on the market are slowed down or sometimes hindered by regulatory standards and limiting financial conflicts of interest.

Atypical clinical and sonographic manifestations of lymphadenopathy in a child with cat-scratch disease: A case report.

Cat-scratch disease is a well-known infection in childhood. It usually presents as tender lymphadenopathy and should be included in the differential diagnosis of any lymphadenopathy syndrome. An history of exposure to cats supports the suspect and a positive serologic test to Bartonella henselae confirms the diagnosis.

Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).

Hypomyelinating leukodystrophies (HLD) are a group of heterogeneous genetic disorders characterized by a deficit in myelin deposition during brain development. Specifically, 4H-Leukodystrophy is a recessive disease due to biallelic mutations in the POLR3A gene, which encodes one of the subunits forming the catalytic core of RNA polymerase III (PolIII). The disease also presents non-neurological signs such as hypodontia and hypogonadotropic hypogonadism.

Role of epigenetics and alterations in RNA metabolism in leukodystrophies.

Leukodystrophies are a class of rare heterogeneous disorders which affect the white matter of the brain, ultimately leading to a disruption in brain development and a damaging effect on cognitive, motor and social-communicative development. These disorders present a great clinical heterogeneity, along with a phenotypic overlap and this could be partially due to contributions from environmental stimuli. It is in this context that there is a great need to investigate what other factors may contribute to both disease insurgence and phenotypical heterogeneity, and novel evidence are raising the attention toward the study of epigenetics and transcription mechanisms that can influence the disease phenotype beyond genetics.

Magnetic resonance imaging of intracranial anomalies in pregnancies complicated by twin anemia-polycythemia sequence.

Purpose: To describe fetal brain Magnetic Resonance Imaging (MRI) findings in a large series of monochorionic (MC) pregnancies complicated by Twin Anemia-Polycythemia Sequence (TAPS) prenatally diagnosed, so to characterize the potential intracranial complications associated with this condition, their frequency and potential treatment options.

Methods: This is a retrospective study of MC twin pregnancies complicated by TAPS and undergone fetal MRI in a single institution from 2006 to 2023. MRI control was performed and post-natal ultrasound (US) or MRI were available.

Brainstem Chipmunk Sign: A Diagnostic Imaging Clue across All Subtypes of Alexander Disease.

Background And Purpose: While classic brain MR imaging features of Alexander disease have been well-documented, lesional patterns can overlap with other leukodystrophies, especially in the early stages of the disease or in milder phenotypes. We aimed to assess the utility of a new neuroimaging sign to help increase the diagnostic specificity of Alexander disease.

Materials And Methods: A peculiar bilateral symmetric hyperintense signal on T2-weighted images affecting the medulla oblongata was identified in an index patient with type I Alexander disease.