Improvement in paediatric CT use and justification: a single-centre experience.

Objectives: To analyse changes in the use of paediatric (≤16 years) CT over the past decade and to evaluate the appropriateness of CT examinations at a tertiary teaching hospital.

Methods: Data from 290 paediatric CTs were prospectively collected in 2022 and compared with data from 2017 (358 cases) and 2012 (538 cases). The justification of CTs was evaluated with regard to medical imaging referral guidelines and appropriateness rates were calculated.

Vascular syndrome predicts the development and course of epilepsy after perinatal stroke.

Objective: Epilepsy develops in one third of the patients after perinatal stroke. It is still unclear which vascular syndrome of ischemic stroke carries higher risk of epilepsy. The aim of the current study was to evaluate the risk of epilepsy according to the vascular syndrome of perinatal stroke.

Periventricular hemorrhagic infarction in preterm neonates: Etiology and time of development.

Background: To find the obstetrical and delivery associated risk factors of antenatal and postnatal grade III intraventricular hemorrhage (IVH) or periventricular hemorrhagic infarction (PVHI) in preterm neonates.

Methods: A retrospective study of obstetric and delivery associated risk factors included neonates (<35 gestational weeks) with severe IVH/PVHI (n = 120) and a prospectively collected control group (n = 50). The children were divided into: (1) antenatal onset group (n = 27) with insult visible on cerebral ultrasonography within the first 12 hours of birth or periventricular cystic changes visible in PVHI within the first 3 days; (2) neonatal onset group (n = 70) with insult diagnosed after initial normal findings or I-II grade IVH, and (3) unknown time-onset group (n = 23) with insult visible at > 12 h of age.

The thalamus and basal ganglia are smaller in children with epilepsy after perinatal stroke.

Background: Epilepsy is one of the most serious consequences of perinatal stroke. Epilepsy itself has been proposed as a risk factor for impaired cognitive, language, and behavioral functioning. It is still unclear which children develop epilepsy after perinatal stroke.

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction.

Introduction: The aim of this study was to evaluate genetic risk factors in term-born children with antenatal periventricular hemorrhagic infarction (PVHI), presumed antenatal periventricular venous infarction and periventricular hemorrhagic infarction in preterm neonates.

Methods: Genetic analysis and magnetic resonance imaging were performed in 85 children: term-born children (≥36 gestational weeks) with antenatal periventricular hemorrhagic infarction (n = 6) or presumed antenatal (n = 40) periventricular venous infarction and preterm children (<36 gestational weeks) with periventricular hemorrhagic infarction (n = 39). Genetic testing was performed using exome or large gene panel (n = 6700 genes) sequencing.

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.

Background: Pathogenic variants in AXIN2 have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information.

Methods: Data were collected via a structured questionnaire.

Maternal Pyelonephritis as a Potential Cause of Perinatal Periventricular Venous Infarction in Term-Born Children.

The study was designed to assess the prevalence of pregnancy and delivery associated risk factors in children suffering from neonatal or presumed periventricular venous infarction. Antenatal records and pregnancy outcome data were retrospectively assessed in children with presumed periventricular venous infarction (n = 43, born ≥36 gestational weeks) or neonatal periventricular venous infarction (n = 86, born <36 gestational weeks) and compared to a matched control group (n = 2168, ≥36 gestational weeks) from a prospective study. Children with presumed periventricular venous infarction had significantly more maternal bacterial infections compared to the control group (47% vs 20%, respectively,  < .

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Purpose: WNK3 kinase (PRKWNK3) has been implicated in the development and function of the brain via its regulation of the cation-chloride cotransporters, but the role of WNK3 in human development is unknown.

Method: We ascertained exome or genome sequences of individuals with rare familial or sporadic forms of intellectual disability (ID).

Results: We identified a total of 6 different maternally-inherited, hemizygous, 3 loss-of-function or 3 pathogenic missense variants (p.

Language lateralization and outcome in perinatal stroke patients with different vascular types.

Perinatal stroke affects child's language development and can change language lateralization. Language generation and comprehension tasks in functional magnetic resonance imaging were used to determine language lateralization in term born children with perinatal left-side arterial ischemic stroke (AIS) (n = 9, mean age (SD) 13.4 (3.

Ipsilesional volume loss of basal ganglia and thalamus is associated with poor hand function after ischemic perinatal stroke.

Background: Perinatal stroke (PS) is the leading cause of hemiparetic cerebral palsy (CP). Involvement of the corticospinal tract on neonatal magnetic resonance imaging (MRI) is predictive of motor outcome in patients with hemiparetic CP. However, early MRI is not available in patients with delayed presentation of PS and prediction of hemiparesis severity remains a challenge.

Impact of obesity on vascular calcification in patients with chronic kidney disease.

Aim: The aim of this study was to compare vascular calcification (VC) in obese and non-obese chronic kidney disease (CKD) patients, using three methods for measuring VC.

Materials And Methods: The study included 168 consecutive patients with CKD. Patients were divided into two groups by body mass index (BMI) - group 1 (BMI ≥ 30 kg/m) and group 2 (BMI < 30 kg/m), and according to estimated glomerular filtration rate (eGFR) - subgroup A (eGFR < 45 mL/min/1.

A form of muscular dystrophy associated with pathogenic variants in JAG2.

JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway contributes to the development and homeostasis of multiple tissues, including skeletal muscle. We studied an international cohort of 23 individuals with genetically unsolved muscular dystrophy from 13 unrelated families.

Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported.

Variations in CT Utilization, Protocols, and Radiation Doses in COVID-19 Pneumonia: Results from 28 Countries in the IAEA Study.

Background There is lack of guidance on specific CT protocols for imaging patients with coronavirus disease 2019 (COVID-19) pneumonia. Purpose To assess international variations in CT utilization, protocols, and radiation doses in patients with COVID-19 pneumonia. Materials and Methods In this retrospective data collection study, the International Atomic Energy Agency coordinated a survey between May and July 2020 regarding CT utilization, protocols, and radiation doses from 62 health care sites in 34 countries across five continents for CT examinations performed in patients with COVID-19 pneumonia.

The Cost-Effectiveness of Abdominal Aortic Aneurysm Screening in Estonia.

Objective: To assess the cost-effectiveness of population-based abdominal aortic aneurysm (AAA) screening in Estonia.

Methods: A Markov cohort model was used to evaluate the cost-effectiveness of population-based AAA screening compared with no screening. A hypothetical cohort of 6000 men aged 65 was followed for 35 years.

Association of Temporomandibular Joint Osseous Changes with Anxiety, Depression, and Limitation of Mandibular Function in Elderly Vietnamese.

Objectives: This study aimed (1) to determine the prevalence of anxiety, depression, and TMJ osseous changes in elderly Vietnamese according to sex and residence, and (2) to investigate the association of temporomandibular joint (TMJ) osseous changes with anxiety, depression, and limitation of mandibular function.

Methods: Elderly people living in Danang, Vietnam were recruited. Participants were screened for anxiety and depression using the self-reported 7-item Generalized Anxiety Disorder Scale (GAD-7) and 9-item Patient Health Questionnaire (PHQ-9), respectively.

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

PEHO syndrome is characterized by Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic atrophy, which was first described in Finnish patients. A homozygous missense substitution p.Ser31Leu in ZNHIT3 was recently identified as the primary cause of PEHO syndrome in Finland.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy.

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Objective: To characterize the neurologic phenotypes associated with mutations and to seek genotype-phenotype correlation.

Methods: We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with mutations.

Results: Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most common phenotype.

Long-term neurodevelopmental outcome after perinatal arterial ischemic stroke and periventricular venous infarction.

Background: Long-term follow-up data after different vascular types of ischemic perinatal stroke is sparse. Our aim was to study neurodevelopmental outcomes following neonatal and presumed perinatal ischemic middle cerebral artery territory stroke (arterial ischemic stroke, AIS) and periventricular venous infarction (PVI).

Methods: A prospective consecutive cohort of 40 term-born children with perinatal stroke (21 AIS, 19 PVI) was identified through the Estonian Paediatric Stroke Database.

Epilepsy after perinatal stroke with different vascular subtypes.

Objective: With an incidence up to 63 per 100,000 live births, perinatal stroke is an important cause of childhood epilepsy. The aim of the study was to find the prevalence of and predictive factors for epilepsy, and to describe the course of epilepsy in children with perinatal stroke with different vascular subtypes.

Methods: Patients were retrieved from the Estonian Paediatric Stroke Database with follow-up time at least 24 months.

Incidence of Childhood Epilepsy in Estonia.

The aim of this prospective epidemiological study was to establish the incidence rate of childhood epilepsy in Estonia, to describe the clinical spectrum and to identify etiology of childhood epilepsy. The overall incidence rate was 86.3/100 000.

Symptomatic Neonatal Arterial Ischemic Stroke With Prenatal and Postnatal Neuroimaging.

The authors report a girl born at term via planned cesarean delivery. Three days earlier, an antenatal magnetic resonance imaging study, showing no cerebral lesions in the fetus, was performed. Ten minutes after delivery, signs of progressive respiratory failure developed and the infant was transferred to the intensive care unit.