Reversible Perfusion Changes during Acute Attacks in Glucose Transporter Type 1 Deficiency Syndrome: A Pediatric Case Series.

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is an uncommon condition represented by an infantile-onset disorder, frequently arising from heterozygous mutations in the gene. Individuals with GLUT1-DS may present with early-onset seizures (typically manifesting before 4 years of age), developmental delay, and complex movement disorders. In fewer cases, stroke-like events or hemiplegic migraine-like symptoms are also reported, defined by unilateral paresis affecting 1 side of the body and/or one-half of the face, occasionally accompanied by speech impairment.

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.

Colchicine treatment in amyotrophic lateral sclerosis: safety, biological and clinical effects in a randomized clinical trial.

In preclinical studies, the anti-inflammatory drug colchicine, which has never been tested in amyotrophic lateral sclerosis, enhanced the expression of autophagy factors and inhibited accumulation of transactive response DNA-binding protein 43 kDa, a known histopathological marker of amyotrophic lateral sclerosis. This multicentre, randomized, double-blind trial enrolled patients with probable or definite amyotrophic lateral sclerosis who experienced symptom onset within the past 18 months. Patients were randomly assigned in a 1:1:1 ratio to receive colchicine at a dose of 0.

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.

Alterations in neural activation in the ventral frontoparietal network during complex magnocellular stimuli in developmental dyslexia associated with READ1 deletion.

Background: An intronic deletion within intron 2 of the DCDC2 gene encompassing the entire READ1 (hereafter, READ1d) has been associated in both children with developmental dyslexia (DD) and typical readers (TRs), with interindividual variation in reading performance and motion perception as well as with structural and functional brain alterations. Visual motion perception -- specifically processed by the magnocellular (M) stream -- has been reported to be a solid and reliable endophenotype of DD. Hence, we predicted that READ1d should affect neural activations in brain regions sensitive to M stream demands as reading proficiency changes.