Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

Despite their burden, most congenital defects remain poorly understood, due to lack of knowledge of embryological mechanisms. Here, we identify Greb1l mutants as a mouse model of crisscross heart. Based on 3D quantifications of shape changes, we demonstrate that torsion of the atrioventricular canal occurs together with supero-inferior ventricles at E10.

Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.

Background: Severe primary insulin-like growth factor-I (IGF-I) deficiency (SPIGFD) is a rare growth disorder characterized by short stature (standard deviation score [SDS] ≤ 3.0), low circulating concentrations of IGF-I (SDS ≤ 3.0), and normal or elevated concentrations of growth hormone (GH).

Erythropoietin downregulates red blood cell clearance, increasing transfusion efficacy in severely anemic recipients.

Red blood cells (RBC) transfusion is used to alleviate symptoms and prevent complications in anemic patients by restoring oxygen delivery to tissues. RBC transfusion efficacy, that can be measured by a rise in hemoglobin (Hb) concentration, is influenced by donor-, product-, and recipient-related characteristics. In some studies, severe pre-transfusion anemia is associated with a greater than expected Hb increment following transfusion but the biological mechanism underpinning this relationship remains poorly understood.

Proof of Concept: A New Solution for Low-Profile Transcatheter Implantation of Optimus-L Stents in Small Children.

Background: There is no stent designed or approved for use in infants. We sought to obtain in vitro and in vivo data on a new concept conceived to implant Optimus-L stents at infant vessel diameters and offer a potential long term stent solution.

Methods: Nineteen Optimus-L stents were mounted on 8 types of angioplasty balloons with diameters 6, 8, and 10 mm with the use of an injection-moulded hand crimper.

Clinics dedicated to transition preparation for adolescents and young adults with chronic conditions: Factors influencing their use.

To pool resources and reduce inequalities in access to transition preparation for patients, transition clinics were created in France. They are places in hospitals, independent of the usual care departments, offering multiple resources and services for adolescents and their parents. Of the 24 physicians from care departments who were surveyed, half of them do not use transition clinics.

Catheter ablation of atrial tachyarrhythmias in patients with atrioventricular septal defect.

Aims: The incidence of atrial tachyarrhythmias is high in patients with atrioventricular septal defect (AVSD). No specific data on catheter ablation have been reported so far in this population. We aimed to describe the main mechanisms of atrial tachyarrhythmias in patients with AVSD and to analyse outcomes after catheter ablation.

Arterial Spin-Labeling in the Assessment of Pediatric Nontraumatic Orbital Lesions.

Benign and malignant pediatric orbital lesions can sometimes have overlapping features on conventional MR imaging sequences. MR imaging of 27 children was retrospectively reviewed to describe the signal of some common pediatric extraocular orbital lesions on arterial spin-labeling and to evaluate whether this sequence helps to discriminate malignant from benign masses, with or without ADC value measurements. Qualitative and quantitative assessments of arterial spin-labeling CBF and ADC were performed.

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.

Ectodermal dysplasias are genetic conditions affecting the development and/or homeostasis of 2 or more ectodermal derivatives, including hair, teeth, nails, and certain glands. No tool is available to assess the burden of ectodermal dysplasias and its multidimensional impact on patients and their families. This study developed and validated a familial/parental 19-item burden questionnaire designed specifically for ectodermal dysplasias.

Improvised bespoke technique for atrial septostomy in the shortage of atrioseptostomy balloon catheters.

Atrioseptostomy balloon catheter is an essential item to have on our shelves. However, the recall and shortage in production of the commonly used balloon atrioseptostomy catheters posed an imminent threat to our patients. Herein, we present the case of a newborn with a post-natal diagnosis of simple transposition of great arteries and restrictive atrial communication where repeated static balloon atrial septostomy using a 9 mm x 20 mm Sterling balloon failed to improve his status.

The rationale for nephron-sparing surgery in unilateral non-syndromic Wilms tumour.

The central question of nephron-sparing surgery in unilateral non-syndromic Wilms tumour sits at a crossroads between surgery, oncology, and nephrology. There has been a significant paradigm shift in paediatric oncology towards reducing toxicity and addressing long-term treatment-related sequalae amongst childhood cancer survivors. After paediatric nephrectomy and 30-50 years of follow-up, 40% of patients will have chronic kidney disease, including 22% with hypertension and 23% with albuminuria.

Sinus rhythm QRS morphology reflects right ventricular activation and anatomical ventricular tachycardia isthmus conduction in repaired tetralogy of Fallot.

Background: Patients with repaired tetralogy of Fallot (TOF) are at risk for ventricular tachycardia (VT) related to well-described anatomical isthmuses.

Objective: The purpose of this study was to explore QRS morphology as an indicator of anatomical isthmus conduction.

Methods: Patients with repaired TOF and complete right bundle branch block referred for transcatheter pulmonary valve replacement (PVR) or presenting with sustained VT underwent comprehensive 3-dimensional mapping in sinus rhythm.

Frequency and Predictive Factors of Hypoglycemia in Patients Treated With rhIGF-1: Data From the Eu-IGFD Registry.

Context: The European Increlex® Growth Forum Database (Eu-IGFD) is an ongoing surveillance registry (NCT00903110) established to collect long-term safety and effectiveness data on the use of recombinant human insulin-like growth factor-1 (rhIGF-1, mecasermin, Increlex) for the treatment of children/adolescents with severe primary insulin-like growth factor-1 deficiency (SPIGFD).

Objective: This analysis of Eu-IGFD data aimed to identify the frequency and predictive factors for hypoglycemia adverse events (AEs) in children treated with rhIGF-1.

Methods: Data were collected from December 2008 to May 2021.