Multimodal Imaging of Coronary Bifurcation TAP Procedures Utilizing Visible Heart® Methodologies: EBC Recommended Steps and Bailout Procedures.

In some cases it is critical to clinically perform coronary bifurcation stenting to minimize the potential risk for restenosis and/or stent thrombosis. The European Bifurcation Club (EBC) has provided guidelines for optimally performing such procedures. Yet, sometimes such procedures do not go as planned, and in some cases bailout procedures are required.

MyThisYourThat for interpretable identification of systematic bias in federated learning for biomedical images.

Distributed collaborative learning is a promising approach for building predictive models for privacy-sensitive biomedical images. Here, several data owners (clients) train a joint model without sharing their original data. However, concealed systematic biases can compromise model performance and fairness.

Erythrocytapheresis in Children and Young Adults with Hemoglobinopathies and Iron Overload in Need of Iron Chelation Therapy.

Limited data regarding erythrocytapheresis in children, adolescents, and young adults have been published. The aim of this study was to evaluate erythrocytapheresis, either as a standalone therapy or in combination with iron chelation therapy, in children and young adults with hemoglobinopathies in whom current iron chelation therapy is not sufficient in decreasing the iron overload during management. We retrospectively analysed erythrocytapheresis in 19 patients with hemoglobinopathies in need of iron chelation therapy diagnosed with sickle cell disease (SCD) or β-thalassemia major.

Excision of Atrial Myxoma Through a Totally Thoracoscopic Approach on the Fibrillating Heart.

Cardiac myxomas are the most common form of primary cardiac neoplasms. Although benign, they can be deleterious by causing embolic events and intracardiac obstruction. After complete surgical resection, the prognosis is excellent.

Configuration of two-stent coronary bifurcation techniques in explanted beating hearts: the MOBBEM study.

Background: In patients with complex coronary bifurcation lesions undergoing percutaneous coronary intervention (PCI), various 2-stent techniques might be utilised. The Visible Heart Laboratories (VHL) offer an experimental environment where PCI results can be assessed by multimodality imaging.

Aims: We aimed to assess the post-PCI stent configuration achieved by 2-stent techniques in the VHL and to evaluate the procedural factors associated with suboptimal results.

Elastic and thermo-elastic characterizations of thin resin films using colored picosecond acoustics and spectroscopic ellipsometry.

Colored Picosecond Acoustics (CPA) and Spectroscopic Ellipsometry (SE) are combined to measure elastic and thermoelastic properties of polymer thin-film resins deposited on 300 mm wafers. Film thickness and refractive index are measured using SE. Sound velocity and thickness are measured using CPA from the refractive index.

Multimodal Comparisons of Results Achieved by Different Side Branch Ballooning Techniques for Bifurcation Provisional Stenting.

Background: Stepwise provisional stenting is the gold standard for percutaneous coronary intervention (PCI) on bifurcation lesions, but the optimal ballooning technique for eventual side branch treatment is not established. The objective of the present study was to compare the stent configuration obtained by 2 different side branch optimization techniques performed after main vessel (MV) stent implantation: proximal optimization technique+kissing balloon inflation+final proximal optimization technique (POT/KBI/POT [PKP]) versus proximal optimization technique+isolated side branch dilation+final proximal optimization technique (POT-side-POT [PSP]).

Methods: We realized a 1:1 prospective randomized trial comparing bifurcation PCI conducted (under angiographic and angioscopic visualization) with either PKP or PSP in reanimated swine hearts using commercially available drug-eluting stents.

Incidence, complications, and costs of peripheral venous catheter-related bacteraemia: a retrospective, single-centre study.

Background: Peripheral venous catheter (PVC) complications occur on average in approximately half of patients, necessitating premature PVC removal, suspending administration of ongoing therapies, and catheter replacement.

Aim: To estimate the current incidence, complications, and costs of bloodstream infection (BSI) attributable to PVCs.

Methods: Patients with PVC-related BSI (cases) were matched with patients without PVC-related BSI (controls).

Multimodal Imaging of a Chimney-Stenting Procedure Performed Simultaneously with a Transcatheter Aortic Valve Replacement (TAVR) in a Reanimated Human Heart including Post-Implant Analyses.

Transcatheter aortic valve replacement (TAVR) has become a popular treatment option for severe aortic stenosis for patients with a high risk for mortality with surgical aortic valve replacement (SAVR). Coronary artery occlusion (CAO) following the implantation of the device is a potential and sometimes devastating complication of this procedure, that provokes a sudden deterioration of hemodynamic status followed by cardiogenic shock and electrical instability. With patients that present a high risk for coronary obstruction, coronary protection with a chimney stenting technique is an effective strategy that can ensure coronary perfusion during TAVR in case of acute CAO.

ACTIVLIM-Hemo: A new self-reported, unidimensional and linear measure of activity limitations in persons with haemophilia.

Introduction: To assess activity limitations in people with haemophilia (PwH), the self-reported Haemophilia Activity List (HAL) is widely employed, despite several methodological limitations impacting the interpretation of categorical scores. Modern psychometric approaches avoid these limitations by using a probabilistic model, such as the Rasch model. The ACTIVLIM is a Rasch-built measurement of activity limitations previously validated in several clinical conditions like neuromuscular disorders.

A novel variant associated with an atypical moderate and late-onset LCHAD deficiency.

Background: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare inherited disease caused by pathogenic variants of gene. Along with signs common to fatty acid oxidation defects (FAOD), specific retina and heart alterations are observed. Because long-chain fatty acid oxidation is selectively affected, supplementations with short/medium-chain fats represent energetic sources bypassing the enzymatic blockade.

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with Variants.

Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two additional patients retrieved from a Swiss cohort. Next-generation sequencing of large panels combined with whole-genome sequencing allowed for the identification of twelve variants from which seven were novel.

Novel Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy.

Variants of the gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few patients have been clinically and genetically described. In this study, we report five patients harbouring biallelic variants of Four adult patients presented either COD or CORD with onset in the late teenage years.

The epidemiology of injury and illness at the Vitality Netball World Cup 2019: an observational study.

Background: Netball is a physical game with sudden direction changes, decelerations, jumping and landing, stop/start maneuvers and restrictive footwork rules exposing players to injury. Close contact play and shared facilities during tournaments, increase illness risk.: To describe incidence, period prevalence, types and severity of injuries and illnesses during the 10-day Vitality Netball World Cup 2019 (NWC).

A meta-learning approach for genomic survival analysis.

RNA sequencing has emerged as a promising approach in cancer prognosis as sequencing data becomes more easily and affordably accessible. However, it remains challenging to build good predictive models especially when the sample size is limited and the number of features is high, which is a common situation in biomedical settings. To address these limitations, we propose a meta-learning framework based on neural networks for survival analysis and evaluate it in a genomic cancer research setting.

Quantified biomechanical properties of lower lumbar myofascia in younger adults with chronic idiopathic low back pain and matched healthy controls.

Background: Non-specific chronic low back pain (LBP) is a prevalent condition that is poorly understood with respect to possible altered physical properties. Five biomechanical properties of stiffness, frequency, decrement, creep, and stress relaxation time of the L3-L4 myofascial tissue were quantified using the MyotonPro® in chronic idiopathic LBP and matched normal control subjects.

Methods: Measurements were obtained in the resting prone position on the left and right sides (initially and after 10 min rest) in 25 chronic LBP participants (16 female, 9 male) and 25 age- and sex-matched control subjects.

Phase II study of temozolomide and topotecan (TOTEM) in children with relapsed or refractory extracranial and central nervous system tumors including medulloblastoma with post hoc Bayesian analysis: A European ITCC study.

Aim: To assess objective response after two cycles of temozolomide and topotecan (TOTEM) in children with refractory or relapsed miscellaneous extracranial solid and central nervous system (CNS) tumors, including medulloblastoma and primitive neuroectodermal tumors (PNET).

Procedure: Multicenter, nonrandomized, phase 2 basket trial including children with solid tumors, completed by a one-stage design confirmatory cohort for medulloblastoma, and an exploratory cohort for PNET. Main eligibility criteria were refractory/relapsed measurable disease and no more than two prior treatment lines.

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Purpose: Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation-scanning methods. We aimed to develop a cost-effective sequencing method for ABCA4 exons and regions carrying known causal deep-intronic variants.

Methods: Fifty exons and 12 regions containing 14 deep-intronic variants of ABCA4 were sequenced using double-tiled single molecule Molecular Inversion Probe (smMIP)-based next-generation sequencing.

Worldwide occurrence and origin of perchlorate ion in waters: A review.

Perchlorate (ClO) is a persistent water soluble oxyanion of growing environmental interest. Perchlorate contamination can be a health concern due to its ability to disrupt the use of iodine by the thyroid gland and the production of metabolic hormones. Its widespread presence in surface water and groundwater makes the aquatic environment a potential source of perchlorate exposure.

A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.

Hip problems in Mucopolysaccharidosis type VI (MPS VI) lead to severe disability. Lack of data on the course of hip disease in MPS VI make decisions regarding necessity, timing and type of surgical intervention difficult. We therefore studied the development of hip pathology in MPS VI patients over time.

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis.

Background: Actually, about 2000 sequence variations have been documented in the CFTR gene requiring extensive and multi-step genetic testing in the diagnosis of cystic fibrosis and CFTR-related disorders. We present a two phases study, with validation and performance monitoring, of a single experiment methodology based on multiplex PCR and high throughput sequencing that allows detection of all variants, including large rearrangements, affecting the coding regions plus three deep intronic loci.

Methods: A total of 340 samples, including 257 patients and 83 previously characterized control samples, were sequenced in 17 MiSeq runs and analyzed with two bioinformatic pipelines in routine diagnostic conditions.

Radiation dose estimation for marine mussels following exposure to tritium: Best practice for use of the ERICA tool in ecotoxicological studies.

Accurate dosimetry is critically important for ecotoxicological and radioecological studies on the potential effects of environmentally relevant radionuclides, such as tritium ((3)H). Previous studies have used basic dosimetric equations to estimate dose from (3)H exposure in ecologically important organisms, such as marine mussels. This study compares four different methods of estimating dose to adult mussels exposed to 1 or 15 MBq L(-1) tritiated water (HTO) under laboratory conditions.

Strong coronal channelling and interplanetary evolution of a solar storm up to Earth and Mars.

The severe geomagnetic effects of solar storms or coronal mass ejections (CMEs) are to a large degree determined by their propagation direction with respect to Earth. There is a lack of understanding of the processes that determine their non-radial propagation. Here we present a synthesis of data from seven different space missions of a fast CME, which originated in an active region near the disk centre and, hence, a significant geomagnetic impact was forecasted.

High resolution MRI for preoperative work-up of neonates with an anorectal malformation: a direct comparison with distal pressure colostography/fistulography.

Objective: To compare MRI and colostography/fistulography in neonates with anorectal malformations (ARM), using surgery as reference standard.

Methods: Thirty-three neonates (22 boys) with ARM were included. All patients underwent both preoperative high-resolution MRI (without sedation or contrast instillation) and colostography/fistulography.