Implantation of a novel insertable cardiac monitor: preliminary multicenter experience in Europe.

Background: The LUX-Dx™ is a novel insertable cardiac monitor (ICM) introduced into the European market since October 2022.

Purpose: The aim of this investigation was to provide a comprehensive description of the ICM implantation experience in Europe during its initial year of commercial use.

Methods: The system comprises an incision tool and a single-piece insertion tool pre-loaded with the small ICM.

Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in Gene: Case Report.

This case report describes a novel mutation of the gene as a potential pathogenic cause of spherocytosis. A 3-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis, including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test, no ABO or Rh incompatibility, and a peripheral blood smear notable for numerous spherocytes. His laboratory work demonstrated persistent anemia despite daily folate prompting next-generation sequencing which revealed a novel mutation in the gene resulting in a nonfunctioning protein product.

Quantitative dopamine transporter imaging assessment in Parkinson's disease patients carrying GBA gene mutations compared with idiopathic PD patients: A case-control study.

Background: Genetic risk factors impact around 15% of Parkinson's disease (PD) patients and at least 23 variants have been identified including Glucocerebrosidase (GBA) gene variants. Using different clinical and instrumental qualitative-based data, various studies have been published on GBA-PD cohorts which suggested possible differences in dopaminergic nigrostriatal denervation pattern, particularly in caudate and putamen nuclei.

Methods: This retrospective study included two consecutive homogenous cohorts of GBA-PD and idiopathic (I-PD) patients.

Phenotypic continuum of NFU1-related disorders.

Bi-allelic variants in Iron-Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early-onset rapidly fatal leukoencephalopathy. We report 19 affected individuals from 10 independent families with ultra-rare bi-allelic NFU1 missense variants associated with a spectrum of early-onset pure to complex hereditary spastic paraplegia (HSP) phenotype with a longer survival (16/19) on one end and neurodevelopmental delay with severe hypotonia (3/19) on the other. Reversible or irreversible neurological decompensation after a febrile illness was common in the cohort, and there were invariable white matter abnormalities on neuroimaging.

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.

The Crumbs homolog-2 (CRB2)-related syndrome (CRBS-RS) is a rarely encountered condition initially described as a triad comprising ventriculomegaly, Finnish nephrosis, and elevated alpha-fetoprotein levels in maternal serum and amniotic fluid. CRB2-related syndrome is caused by biallelic, pathogenic variants in the CRB2 gene. Recent reports of CRB2-RS have highlighted renal disease with persistent proteinuria and steroid-resistant nephrotic syndrome (SRNS).

Multi-modality Imaging Evaluation of a Rare and Complex Case of Single Ventricle Physiology; the important role of Cardiac MR.

Congenital heart diseases (CHD) represent a major clinical and diagnostic challenge for correct abnormality identification and subsequent successful therapy; even more challenging is following-up patient health after multiple post-interventional corrections often required in complex cardio-vascular abnormalities. We describe a multi-modality imaging evaluation of a complex congenital cardio-vascular diseases, underlining the relevance of cardiac magnetic resonance to non invasively solve some issues related to postsurgical changes.

An unusual case of severe left ventricle outflow tract obstruction due to a coexistence of Takotsubo cardiomyopathy with septal hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a genetic disorder presenting with a pathological increase of left ventricle (LV) wall thicknesses. The most frequent morphological form is characterized by an abnormal LV basal septal hypertrophy. Tako-Tsubo cardiomyopathy (TTC) is a transient left ventricular systolic dysfunction induced by high physical or emotional stress.

Risk of thrombophlebitis associated with continuous peripheral infusion of vancomycin: The effect of dilution.

Introduction: Although several guidelines recommend that prolonged administration of vancomycin should be preferably carried out by a central venous access, vancomycin is often given peripherally. Whether such risk may be affected by different modalities of administration in terms of dilution and time of infusion, it is a matter of controversy.

Methods: This single-center prospective study enrolled all consecutive patients requiring prolonged intravenous infusion of vancomycin (1 g/day) using long peripheral cannula "mini-midline.

Component-Resolved Diagnosis for Endotyping Patients with Chronic Rhinosinusitis with Nasal Polyps.

Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is a predominantly type 2 inflammation-mediated disease of the nasal mucosa and paranasal sinuses that often coexists with asthma. The role of atopy in the development and severity of CRSwNP is still a controversial issue.

Objective: The aim of our study was to propose a systematic allergy workup to identify atopic patients in the context of CRSwNP and to characterize their allergen sensitization profile (sources/molecules).

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

Purpose: The human chromosome 19q13.11 deletion syndrome is associated with a variable phenotype that includes aplasia cutis congenita (ACC) and ectrodactyly as specific features. UBA2 (ubiquitin-like modifier-activating enzyme 2) lies adjacent to the minimal deletion overlap region.

Bipolar Disorder and Parkinson's Disease: A I-Ioflupane Dopamine Transporter SPECT Study.

Bipolar disorder (BD) has been suggested to be a risk factor for the development of Parkinson's disease (PD). Standard treatment of BD includes drugs that are known to induce drug-induced parkinsonism (DIP). Clinical differentiation between PD and DIP is crucial and might be aided by functional neuroimaging of the dopaminergic nigrostriatal pathway.

Can Magnetic Resonance Radiomics Analysis Discriminate Parotid Gland Tumors? A Pilot Study.

Our purpose is to evaluate the performance of magnetic resonance (MR) radiomics analysis for differentiating between malignant and benign parotid neoplasms and, among the latter, between pleomorphic adenomas and Warthin tumors. We retrospectively evaluated 75 T2-weighted images of parotid gland lesions, of which 61 were benign tumors (32 pleomorphic adenomas, 23 Warthin tumors and 6 oncocytomas) and 14 were malignant tumors. A receiver operating characteristics (ROC) curve analysis was performed to find the threshold values for the most discriminative features and determine their sensitivity, specificity and area under the ROC curve (AUROC).

Correction to: Multiple spontaneous skull base cerebrospinal fluid leaks: some insights from an international retrospective collaborative study.

In the original publication of the article, the following affiliation "Medical school, University of Nicosia, Nicosia, Cyprus" of the author "Christos Georgalas" was missed and included in this correction.

Comparison of a purely endoscopic three-layer technique versus pericranial flap for reconstruction of anterior skull base defects after sino-nasal tumor resection: assessment of postoperative frontal lobe sagging and frontal lobe falling.

Background: The evolution of endoscopic skull base approaches has enabled surgeons to manage selected skull base tumors through a transnasal endoscope-assisted approach. On the other side, more extensive lesions may require a combined cranioendoscopic approach. In this paper, we analysed and compared the incidence of frontal lobe sagging after endoscopic multilayer (EM) reconstruction versus pericranial flap (PF) reconstruction.

An unusual interventricular septal bounce in a patient with dermatomyositis: a case report.

Background: In literature it has been reported in 1998, for the first time, a case of a 54-year-old man who developed constrictive pericarditis (CP) 12 years after diagnosis of dermatomyositis (DM). To our knowledge, this may be the only case reported.

Case Summary: A 16-year-old man presented to our institution because of symptoms posing a suspicion for an inflammatory disease; after physical examination, lab tests, and other investigations (electromyography, magnetic resonance, and muscular biopsy) was diagnosed as having DM.

Aortic Regurgitation as a Risk Factor for Coronary Embolization from Complex Atheromatous Aortic Plaques: A Clinical Case.

Patients with mobile aortic arch atheroma and severe aortic regurgitation may be at higher risk of systemic embolism. We report the case of a 68-year-old male patient with complex aortic arch plaque with superimposed thrombus, in which an acute inferior ST-elevation myocardial infarction occurred. In the reported case, coronary embolism may have been caused by flaked aortic plaque and/or superimposed thrombus, which was possibly carried by aortic regurgitation flow.

Nasal Cytology: A Comparative Study of Two Different Techniques of Processing-Smeared versus Cytocentrifuged Slides.

Nasal cytology is a precious tool to study nasal disorders, but in current literature, there is no consensus on the standardization of the processing procedure of the obtained samples. Therefore, we decided to test on specimens obtained by nasal scraping, a common way of nasal specimen sampling, two different processing techniques, smear and cytocentrifugation, and compare them in terms of inflammatory cell content, quality of slides, and validity on clinical assessment. We analyzed 105 patients with suspected sinonasal diseases, and in each patient, we performed nasal cytology with both techniques.

Biallelic disruption of is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features.

Background: During mouse embryonic development the protein kinase domain containing, cytoplasmic () gene, also known as is expressed in several tissues including the ventral midbrain, with particularly strong expression in branchial arches and limb buds. Homozygous knockout mice have dysmorphic features and shortened long bones as the most obvious morphological abnormalities. The human gene has currently not been associated with any disorders.

Prevalence and Clinical Relevance of Extracardiac Findings in Cardiovascular Magnetic Resonance Imaging.

Purpose: To assess the prevalence of extracardiac findings (ECF) during cardiovascular magnetic resonance (CMR) examinations and their downstream effect on clinical management.

Materials And Methods: We retrospectively identified 500 consecutive patients. Trans-axial balanced steady-state free precession nongated images acquired from the upper thorax to the upper abdomen were evaluated independently by 2 radiologists.