Enhanced VWF clearance in low VWF pathogenesis: limitations of the VWFpp/VWF:Ag ratio and clinical significance.

Increased von Willebrand factor (VWF) clearance plays a key role in the pathogenesis of type 1 and type 2 von Willebrand disease (VWD). However, the pathological mechanisms involved in patients with mild to moderate reductions in plasma VWF:Ag (range, 30-50 IU/dL; low VWF) remain poorly understood. In this study, we investigated the hypothesis that enhanced VWF clearance may contribute to the pathobiology of low VWF.

Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy.

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort.

The emerging role of atrial strain assessed by cardiac MRI in different cardiovascular settings: an up-to-date review.

The left atrium (LA) has a crucial function in maintaining left ventricular filling, which is responsible for about one-third of all cardiac filling. A growing body of evidence shows that LA is involved in several cardiovascular diseases from a clinical and prognostic standpoint. LA enlargement has been recognized as a predictor of the outcomes of many diseases.

Adult congenital heart disease: Special considerations for COVID-19 and vaccine allocation/prioritization.

Individuals with the highest risk for adverse outcomes of COVID-19 should be prioritized by the vaccine allocation policies. We have conducted a literature review of published studies, which comprehend congenital heart disease (CHD) and COVID-19, in order to present the overall evidences of both exposure and clinical risk of patients with adult congenital heart disease (ACHD) and to propose a risk profile schema for those patients to be incorporated into vaccine distribution decisions.

Ictal aphasia in -related autosomal dominant epilepsy with auditory features.

Autosomal dominant epilepsy with auditory features (OMIM 600512) is characterised by focal seizures with distinctive auditory auras and/or ictal aphasia. We describe a 17-year-old girl with recurrent attacks of ictal aphasia and rare nocturnal convulsions. She had a four-generation paternal family history of epilepsy.

Assessment and selection of filler compounds for radiopaque PolyJet multi-material 3D printing for use in clinical settings.

The aim of this research was to assess a selection of radiopaque filler compounds for increasing radiopacity in a resin suitable for Polyjet multi-material 3D printing. A radiopaque resin has potential applications in medicine to produce patient-specific anatomical models with realistic radiological properties, training aids, and skin contacting components such as surgical or procedural guides that require visibility under fluoroscopy. The desirable filler would have a high level of radiopacity under ionising imaging modalities, such as X-ray, CT, fluoroscopy or angiography.

Brachytherapy for Pediatric Patients at Gustave Roussy Cancer Campus: A Model of International Cooperation for Highly Specialized Treatments.

Purpose: Childhood cancer is rare, and treatment is frequently associated with long-term morbidity. Disparities in survival and long-term side effects encourage the establishment of networks to increase access to complex organ-conservative strategies, such as brachytherapy. We report our experience of an international cooperation model in childhood cancers.

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.

Background: Postzygotic activating variants cause several phenotypes within the -related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific tissue involvement and overlapping disorders are responsible for disease heterogeneity. We explored these factors in 150 novel patients and in an expanded cohort of 1007 mutated patients, analysing our new data with previous literature to give a comprehensive picture.

Emerging Role of Cardiac Magnetic Resonance Imaging in Diagnosing Myocarditis: A Blunder or The Way To Get the Problem Sorted?

Acute myocarditis is a disease affecting the myocardial tissue, which is caused by infections, rheumatic diseases, especially sarcoidosis, or certain therapies. Its diagnosis may be difficult, owing to its variable clinical presentation. In this setting, cardiac magnetic resonance plays a pivotal role in detecting myocardial inflammation through qualitative, semiquantitative, and quantitative parameters, in particular with the new quantitative techniques such as T1 and T2 mapping, combined or not with late gadolinium enhancement evaluation.

Non-invasive coronary imaging in patients with COVID-19: A narrative review.

SARS-CoV-2 infection, responsible for COVID-19 outbreak, can cause cardiac complications, worsening outcome and prognosis. In particular, it can exacerbate any underlying cardiovascular condition, leading to atherosclerosis and increased plaque vulnerability, which may cause acute coronary syndrome. We review current knowledge on the mechanisms by which SARS-CoV-2 can trigger endothelial/myocardial damage and cause plaque formation, instability and deterioration.

The von Willebrand factor - ADAMTS-13 axis in malaria.

Cerebral malaria (CM) continues to be associated with major morbidity and mortality, particularly in children aged <5 years in sub-Saharan Africa. Although the biological mechanisms underpinning severe malaria pathophysiology remain incompletely understood, studies have shown that cytoadhesion of malaria-infected erythrocytes to endothelial cells (ECs) within the cerebral microvasculature represents a key step in this process. Furthermore, these studies have also highlighted that marked EC activation, with secretion of Weibel-Palade bodies (WPBs), occurs at a remarkably early stage following malaria infection.

Cytosolic dsRNA improves neonatal innate immune responses to adjuvants in use in pediatric vaccines.

Pattern recognition receptors (PRRs) of the innate immune system represent the critical front-line defense against pathogens, and new vaccine formulations target these PRR pathways to boost vaccine responses, through activation of cellular/Th1 immunity. The majority of pediatric vaccines contain aluminum (ALUM) or monophosphoryl lipid A (MPLA) as adjuvants to encourage immune activation. Evidence suggests that elements of the innate immune system, currently being targeted for vaccine adjuvanticity do not fully develop until puberty and it is likely that effective adjuvants for the neonatal and pediatric populations are being overlooked due to modeling of responses in adult systems.

Minocycline suppresses disease-associated microglia (DAM) in a model of photoreceptor cell degeneration.

As the resident immune cells in the retina, microglia play important homeostatic roles in retinal immune regulation and neuroprotection. However, chronic microglia activation is a common hallmark of many degenerative retinal diseases. The semi-synthetic tetracycline antibiotic, minocycline, appears to inhibit pro-inflammatory microglia which coincides with protection against photoreceptor cell degeneration.

Candidate Role for Toll-like Receptor 3 L412F Polymorphism and Infection in Acute Exacerbation of Idiopathic Pulmonary Fibrosis.

The Toll-like receptor 3 Leu412Phe ( L412F) polymorphism attenuates cellular antiviral responses and is associated with accelerated disease progression in idiopathic pulmonary fibrosis (IPF). The role of L412F in bacterial infection in IPF or in acute exacerbations (AE) has not been reported. To characterize the association between L412F and AE-related death in IPF.

Parental Height and Weight Influence Offspring Adiposity at 2 Years; Findings from the ROLO Kids Birth Cohort Study.

Objective: The perinatal period and in utero environment are important for fetal growth, development, and fetal programming. This study aimed to determine the effect of parental anthropometry and the maternal metabolic milieu on offspring adiposity at 2 years of age.

Study Design: This longitudinal birth cohort includes analysis of maternal ( = 337) and paternal ( = 219) anthropometry and maternal and fetal metabolic markers ( = 337), including glucose, homeostatic model of assessment (HOMA), C-peptide, and leptin from participants of the ROLO (the Randomized Control Trial of Low) pregnancy study, and their partners, to determine an association with offspring anthropometry at two years of age.

The Echocardiographic Parameters of Systolic Function Are Associated with Specific Metabolomic Fingerprints in Obstructive and Non-Obstructive Hypertrophic Cardiomyopathy.

The purpose of this study was to assess whether metabolomics, associated with echocardiography, was able to highlight pathophysiological differences between obstructive (OHCM) or non-obstructive (NOHCM) hypertrophic cardiomyopathy. Thirty-one HCM patients underwent standard and advanced echocardiography; a plasma sample was collected for metabolomic analysis. Results.

A case report of ventricular septal defect complicating transcatheter aortic valve implant for aortic regurgitation: novel complication and technical considerations.

Background: Transcatheter aortic valve implantation (TAVI) has proven efficacy in the treatment of aortic stenosis (AS). Understandably, there is increasing enthusiasm for its use to treat aortic regurgitation (AR). However, there are significant anatomical differences between AS and AR which make TAVI for AR more complex.

Altered Cytokine Endotoxin Responses in Neonatal Encephalopathy Predict MRI Outcomes.

Neonatal encephalopathy (NE) is associated with adverse neurodevelopmental outcome and is linked with systemic inflammation. Pro-inflammatory and anti-inflammatory cytokines are known to play a role in the pathology of NE by activating innate immune cells. Eighty-seven infants were enrolled including 53 infants with NE of whom 52 received therapeutic hypothermia (TH) and 34 term infant healthy controls (TC).

Does Oxygen Content Play a Role in Spontaneous Closure of Perimembranous Ventricular Septal Defects?

(1) Background: the impact of a series of laboratory parameters (haemoglobin, haematocrit, foetal haemoglobin, peripheral oxygen saturation, iron, transferrin, ferritin, and albumin) on perimembranous ventricular septal defects spontaneous healing was tested. (2) Methods: one hundred and seven patients were enrolled in the study (57% males; mean age 2.1 ± 0.

Efficacy of Sirolimus in Patients Requiring Tracheostomy for Life-Threatening Lymphatic Malformation of the Head and Neck: A Report From the European Reference Network.

Extensive lymphatic malformations (LMs) of the head and neck region may require tracheostomy to secure the airway. Treatment of these life-threatening LMs is usually multimodal and includes sclerotherapy and surgery, among others. Recently, systemic therapy with sirolimus has been introduced as an effective treatment for venous and lymphatic malformations; its efficacy and safety profile in patients with extensive LM requiring tracheostomy are, however, as yet not fully known.