A head-to-head comparison of the inter- and intraobserver agreement of COVID-RADS and CO-RADS grading systems in a population with high estimated prevalence of COVID-19

Purpose To evaluate the inter- and intraobserver agreement of COVID-RADS and CO-RADS reporting systems among differently experienced radiologists in a population with high estimated prevalence of COVID-19. Materials and Methods Chest CT scans of patients with clinically-epidemiologically diagnosed COVID-19 were retrieved from an open-source MosMedData dataset, randomised, and independently assigned COVID-RADS and CO-RADS grades by an abdominal radiology fellow, thoracic imaging fellow and a consultant cardiothoracic radiologist. The inter- and intraobserver agreement of the two systems were assessed using the Fleiss’ and Cohen’s kappa coefficients, respectively. Results A total of 200 studies were included in the analysis. Both systems demonstrated moderate interobserver agreement, with kappa values of 0.51 (95% CI: 0.46-0.56) and 0.55 (95% CI: 0.50-0.59) for COVID-RADS and CO-RADS, respectively. When COVID-RADS and CO-RADS grades were dichotomised at cut-off values of 2B and 4 to evaluate the agreement between grades representing different levels of clinical suspicion for COVID-19, the interobserver agreement became substantial with kappa values of 0.74 (95% CI: 0.66-0.82) for COVID-RADS and 0.73 (95% CI: 0.65-0.81) for CO-RADS. The median intraobserver agreement was considerably higher for CO-RADS reaching 0.81 (95% CI: 0.43-0.76) compared with 0.60 (95% CI: 0.43-0.76) of COVID-RADS. Conclusions COVID-RADS and CO-RADS showed comparable interobserver agreement, which was moderate when grades were compared head-to-head and substantial when grades were dichotomised to better reflect the underlying levels of suspicion for COVID-19. The median intraobserver agreement of CO-RADS was, however, considerably higher compared with COVID-RADS. Advances in knowledge This paper provides a comprehensive review of the newly introduced COVID-19 chest CT reporting systems, which will help radiologists of all sub-specialties and experience levels make an informed decision on which system to use in their own practice.Acknowledgments: The authors acknowledge support from Cancer Research UK, National Institute of Health Research Cambridge Biomedical Research Centre, Cancer Research UK and the Engineering and Physical Sciences Research Council Imaging Centre in Cambridge and Manchester and the Cambridge Experimental Cancer Medicine Centre

The use of quetiapine in treatment of acute psychotic symptoms in an adolescent patient with primary brain calcification:A case report

Abstract Background Primary brain calcification (PBC), a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas, typically presents with various neurological and psychiatric symptoms in the fourth or fifth decade of life or later. We present the case of a patient with psychiatric manifestations much earlier than usual, in the second decade of life. Case presentation The case of an adolescent female with acute psychotic symptoms, emotional instability, disorganized and suicidal behavior, stereotypical movements, below average intelligence and a three-year history of headaches is reported. Among others, the presentation included tactile hallucinations with secondary hypochondriacal delusions, which are rarely described in this diagnosis. Massive calcinations in the area of the basal ganglia and thalamus were determined by computerized tomography. Other causes of brain calcification were excluded. No causative mutations were found in selected genes. All the symptoms apart from lower intellectual abilities improved with quetiapine and sertraline. The patient showed no side effects. Conclusions This case report highlights the successful use of quetiapine for symptomatic treatment of acute psychosis due to PBC in an adolescent without exacerbating extrapyramidal symptoms

Heterozygous <i>NPR2</i> Variants in Idiopathic Short Stature

Heterozygous variants in the NPR2 gene, which encodes the B-type natriuretic peptide receptor (NPR-B), a regulator of skeletal growth, were reported in 2–6% cases of idiopathic short stature (ISS). Using next-generation sequencing (NGS), we aimed to assess the frequency of NPR2 variants in our study cohort consisting of 150 children and adolescents with ISS, describe the NPR2 phenotypic spectrum with a growth pattern including birth data, and study the response to growth hormone (GH) treatment. A total of ten heterozygous pathogenic/likely pathogenic NPR2 variants and two heterozygous NPR2 variants of uncertain significance were detected in twelve participants (frequency of causal variants: 10/150, 6.7%). During follow-up, the NPR2 individuals presented with a growth pattern varying from low–normal to significant short stature. A clinically relevant increase in BMI (a mean gain in the BMI SDS of +1.41), a characteristic previously not reported in NPR2 individuals, was observed. In total, 8.8% participants born small for their gestational age (SGA) carried the NPR2 causal variant. The response to GH treatment was variable (SDS height gain ranging from −0.01 to +0.74). According to the results, NPR2 variants present a frequent cause of ISS and familial short stature. Phenotyping variability in growth patterns and variable responses to GH treatment should be considered

National reccomendations for the management of patients with haemophilia

The document presents recommendations for the comprehensive treatment of patients with haemophilia in Slovenia. It enables health workers at all three levels of health care to become well-acquainted with all the possible aspects of treatment based on the best practices of major centres worldwide, and on the studies and experience of health professionals at the National Haemophilia Centre, University Medical Center Ljubljana. The document contains definitions, treatment algorithms and lists of medications with their characteristics and appropriate dosages. It specifically defines indications for the exclusive competence of the tertiary level in Ljubljana due to the actual availability of teams and laboratory options. It also contains an extensive list of the literature on haemophilia

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – a novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry. First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel FAH intronic variant c.607-21A>G and c.192G>T whereas the second was homozygous for c.192G>T. At the non-transplanted patient, 66% of tyrosine and 79% of phenylalanine measurements were in strict reference ranges of 200–400 μmol/L and >30 μmol/L, respectively, which resulted in a favorable cognitive outcome at 3.6 years. On retrograde screening, both patients had elevated SA levelson the other hand, tyrosine was elevated only at one. We showed that non-coding regions should be analyzed when clinical and biochemical markers are characteristic of HT1. DBSs represent a convenient sample type for frequent amino acid monitoring. Retrograde diagnosis of HT1 was possible after more than three years of birth with SA as a primary marker, complemented by tyrosine