Objective: To determine outcomes at birth and postnatal sequelae of congenital cytomegalovirus (cCMV) infection following maternal primary infection in the first trimester with normal fetal brain imaging at midgestation.
Methods: A retrospective, single-center cohort study was conducted, including all cases of proven cCMV infection following maternal primary infection in the first trimester from 2014 until 2021 and normal fetal brain imaging before 22 weeks of gestation. All pregnancies were followed according to our protocol, which offers amniocentesis at least 8 weeks after the onset of infection, serial ultrasound scans, and a fetal MRI in the third trimester.
Background: Children undergoing diagnostic and interventional radiology procedures often require sedation to achieve immobility and analgesia if the procedure is painful. In the past decades, leading scientific organizations have developed evidence-based guidelines for procedural sedation and analgesia in children outside of the operating room. Their recommendations are being applied to procedural sedation in radiology.
View Article and Find Full Text PDFBackground: Recent evidence suggests that weight bias may be pervasive, even among health professionals specialized in obesity, including healthcare students. Technology-based physical activity interventions are promising for people with obesity, specifically when they are theory-driven (e.g.
View Article and Find Full Text PDFIntroduction: Clinical decision support (CDS) systems (CDSSs) that integrate clinical guidelines need to reflect real-world co-morbidity. In patient-specific clinical contexts, transparent recommendations that allow for contraindications and other conflicts arising from co-morbidity are a requirement. In this work, we develop and evaluate a non-proprietary, standards-based approach to the deployment of computable guidelines with explainable argumentation, integrated with a commercial electronic health record (EHR) system in Serbia, a middle-income country in West Balkans.
View Article and Find Full Text PDFANKRD11 (ankyrin repeat domain 11) is a chromatin regulator and the only gene associated with KBG syndrome, a rare neurodevelopmental disorder. We have previously shown that Ankrd11 regulates murine embryonic cortical neurogenesis. Here, we show a novel olfactory bulb phenotype in a KBG syndrome mouse model and two diagnosed patients.
View Article and Find Full Text PDFBackground: Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain malformations have been described in most individuals, with a broad phenotypic spectrum. This observational study, conducted through brain MRI scan analysis on a cohort of patients with genetically confirmed PKS, aims to systematically investigate the neuroradiological features of this syndrome and identify the possible existence of a typical pattern.
View Article and Find Full Text PDFObjective/background: Ketogenic dietary therapies' effects on sleep have been poorly investigated up to date. Preliminary results of a prospective study aimed at evaluating possible sleep changes in pediatric patients with migraine treated with classic ketogenic diet are presented.
Patients/methods: Included patients were aged 14-18 years and had a diagnosis of chronic migraine.
Sleep problems are common in neurological conditions for which ketogenic dietary therapies (KDTs) are recognised as an effective intervention (drug-resistant epilepsy, autism spectrum disorder, and migraine). Given the composite framework of action of ketogenic dietary therapies, the prevalence of sleep disturbance, and the importance of sleep regulation, the present scoping review aimed at identifying and mapping available evidence of the effects of ketogenic dietary therapies on sleep. A comprehensive web-based literature search was performed retrieving publications published to June 2023 using PubMed and Scopus, yielding to 277 records.
View Article and Find Full Text PDFAim: To describe visual function in children with Joubert syndrome and to investigate its possible association with diagnostic and developmental aspects.
Method: This retrospective cross-sectional work included 59 patients (33 male; mean age 9 years 2 months, standard deviation 6 years 3 months, range 4 months to 23 years) diagnosed with Joubert syndrome from January 2002 to December 2020. Data about clinical (neurological, neuro-ophthalmological, developmental/cognitive) and diagnostic (e.
Objective: To evaluate the relationship between impaired brain growth and structural brain abnormalities at term-equivalent age (TEA) and neurodevelopment in extremely low-birth-weight (ELBW) infants over the first 2 years.
Methods: ELBW infants born from 2009 through 2018 and undergoing brain magnetic resonance imaging (MRI) at TEA were enrolled in this retrospective cohort study. MRI scans were reviewed using a validated quali-quantitative score, including several white and gray matter items.
The pursuit of trust in and fairness of AI systems in order to enable human-centric goals has been gathering pace of late, often supported by the use of for the outputs of these systems. Several properties of explanations have been highlighted as critical for achieving trustworthy and fair AI systems, but one that has thus far been overlooked is that of (DA), i.e.
View Article and Find Full Text PDFBackground: The measurement of optic nerve sheath diameter (ONSD) as a non-invasive method of estimating intracranial pressure has been widely reported in the literature. However, few studies have evaluated the accuracy of magnetic resonance imaging (MRI) in assessing ONSD measurements, although it is considered a very reliable method, it is not easily repeatable, expensive and is not readily available bedside. Herein, an assessment of the intra- and inter-rater reliability of ONSD assessment using MRI was conducted.
View Article and Find Full Text PDFNew-onset epileptic seizures and status epilepticus (SE) are the most frequent neurological manifestations of non-ketotic hyperglycemia (NKH), an acute complication of diabetes mellitus (DM). Treatment consists of the correction of the underlying metabolic disorder, whereas anti-seizure medications (ASMs) may even worsen seizures. Evidence on NKH-related seizures is currently restricted to case reports and small case-series.
View Article and Find Full Text PDFJ Vasc Surg Cases Innov Tech
December 2022
For symptomatic buttock arteriovenous malformations (AVMs), embolization techniques and surgical resection have been suggested as treatment options. Our aim was to evaluate the feasibility and long-term results after a single surgical resection. Twelve patients had undergone surgical resection without preoperative embolization.
View Article and Find Full Text PDFBackground: Sonographic assessment of the optic nerve sheath diameter represents a promising non-invasive technique for estimation of the intracranial pressure. A wide inter-observer variability, along with a lack of a standardized protocol for the optic nerve sheath diameter measurements, could lead to over- or under-estimation. The present study was aimed at evaluating feasibility of color-Doppler for better delineating optic nerve sheath borders, comparing it to B-mode imaging, using the magnetic resonance measurements as a comparison.
View Article and Find Full Text PDFThe study's aim was two-fold: to describe the trend of hip subluxation in the largest sample of Italian nonambulatory cerebral palsy (CP) children ever published; to investigate its determinants. This single-centre retrospective cohort study included patients with spastic or dyskinetic CP, Gross Motor Function Classification System (GMFCS) level IV or V, age 0-18 years, having been referred to our unit before March 2020. The hip subluxation was measured by means of the migration percentage (MP).
View Article and Find Full Text PDFBackground: The link between the effects of recombinant human growth hormone (rhGH) therapy in patients with growth hormone deficiency (GHD) and Chiari malformation type I (CM-1) is controversial.
Summary: We report the case of a patient with an unusual association of GHD due to ectopic posterior pituitary and CM-1. Our patient developed a headache and worsening of CM-1 after the initiation of rhGH therapy.
Schwannomas of the olfactory nerve are rare tumors: to the best of our knowledge, 56 cases have been previously reported. Here we describe a new patient presenting with an isolated olfactory schwannoma, highlighting the importance of multiple ancillary tests to approach the intracranial lesion of the anterior skull base, including electron microscopy. We also discuss the enigmatic origin of this entity, moving from the normal histology of the olfactory nerve compared to a peripheral nerve.
View Article and Find Full Text PDFPurpose: The migration percentage is a widely used criterion for surgery in displaced hips. Literature suggests that no hip can spontaneously improve if the migration percentage exceeds 45%, in a mixed population of cerebral palsy children. The aim of the present article was to identify the point of no return of the migration percentage in a selected sample of non-ambulatory cerebral palsy children, being the most exposed to hip luxation.
View Article and Find Full Text PDF