Transseptal versus retrograde approach for ablation of left-sided accessory pathways: impact on radiation exposure.

Management of left-sided accessory pathways (APs) is based on catheter ablation through an antegrade or retrograde approach. Both are safe and effective but are associated with exposure to x-rays; however, recipients of ablation are generally young. We sought to evaluate the impact of the approach chosen on dose-area product (DAP).

A new de novo heterozygous missense mutation in the desmoplakin gene, causing Naxos and Carvajal disease, associating oligodontia and nail fragility.

A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.

Cardiovascular events in perimembranous ventricular septal defect with left ventricular volume overload: a French prospective cohort study (FRANCISCO).

Unlabelled: The long-term prospective multi-centre nationwide (French) observational study FRANCISCO will provide new information on perimembranous ventricular septal defect with left ventricular overload but no pulmonary hypertension in children older than 1 year. Outcomes will be compared according to treatment strategy (watchful waiting, surgical closure, or percutaneous closure) and anatomic features of the defect. The results are expected to provide additional guidance about the optimal treatment of this specific population, which is unclear at present.

Exposure to low-dose ionising radiation from cardiac catheterisation and risk of cancer: the COCCINELLE study cohort profile.

Purpose: The COCCINELLE study is a nationwide retrospective French cohort set up to evaluate the risk of cancer in patients who undergone cardiac catheterisation (CC) procedures for diagnosis or treatment of congenital heart disease during childhood.

Participants: Children who undergone CC procedures from 1 January 2000 to 31 December 2013, before the age of 16 in one of the 15 paediatric cardiology departments which perform paediatric CC in mainland France were included. The follow-up started at the date of the first recorded CC procedure until the exit date, that is, the date of death, the date of first cancer diagnosis, the date of the 18th birthday or the 31 December 2015, whichever occurred first.

Association between Initial Treatment Strategy and Long-Term Survival in Pulmonary Arterial Hypertension.

The relationship between the initial treatment strategy and survival in pulmonary arterial hypertension (PAH) remains uncertain. To evaluate the long-term survival of patients with PAH categorized according to the initial treatment strategy. A retrospective analysis of incident patients with idiopathic, heritable, or anorexigen-induced PAH enrolled in the French Pulmonary Hypertension Registry (January 2006 to December 2018) was conducted.

COVID-19 Associated With Life-Threatening Apnea in an Infant Born Preterm: A Case Report.

A pandemic linked to the new coronavirus strain (SARS-CoV-2) has been raging for several months. Pediatric populations are less impacted than adults, and critical respiratory diseases seem rare (1, 2). We report the case of an infant, who presented with life-threatening apneas at home requiring basic life support.

Transcatheter closure of a perimembranous ventricular septal defect with Nit-Occlud Lê VSD Coil: A French multicentre study.

Background: Transcatheter perimembranous ventricular septal defect (pmVSD) closure remains challenging and is seldom used in France given the risk of atrioventricular block (AVB). pmVSD closure with the Nit-Occlud Lê VSD coil was recently introduced in France as an alternative to occluder devices.

Aims: To study the safety and feasibility of pmVSD closure with the Nit-Occlud Lê VSD coil.

Percutaneous closure of patent ductus arteriosus in premature infants: A French national survey.

Background: Transcatheter closure of patent ductus arteriosus (PDA) in premature infants has been shown to be feasible in small series. Outcomes in larger series are currently lacking.

Material: All premature infants (< 36 weeks GA) who underwent transcatheter PDA closure were included in a multicenter French national survey.

Early Onset of Sleep-Disordered Breathing in Two Children With -Related Myopathies.

Selenoprotein-related myopathy (-RM) is a rare disease with a variable clinical presentation. The selenoprotein N1 gene () mutation causing this congenital muscular dystrophy was identified in 2001. Sleep-disordered breathing (SDB) may occur in young patients with -RM who are still able to walk.

Outcome of adults with Eisenmenger syndrome treated with drugs specific to pulmonary arterial hypertension: A French multicentre study.

Background: The relationship between pulmonary arterial hypertension-specific drug therapy (PAH-SDT) and mortality in Eisenmenger syndrome (ES) is controversial.

Aims: To investigate outcomes in patients with ES, and their relationship with PAH-SDT.

Methods: Retrospective, observational, nationwide, multicentre cohort study.

Transient remission of childhood acute lymphoblastic and myeloid leukemia without any cytostatic treatment: 2 case reports and a review of literature.

Transient remissions (TRs) of acute leukemia without any antileukemic treatment are extremely rare events. We report 2 TRs of acute lymphoblastic leukemia and acute myeloid leukemia in a 2-year-old boy and a 12-year-old girl, respectively, both associated with red blood cells and platelets transfusions and infection. These 2 factors are frequently present in previously reported cases and could induce a stimulation of the immune system although the underlying mechanisms of TRs are still unknown.

Novel mutational mechanism in the thyroglobulin gene: imperfect DNA inversion as a cause for hereditary hypothyroidism.

The objective of this study was to perform genetic analysis in three brothers of Turkish origin born from consanguineus parents and affected by congenital hypothyroidism, goiter and low levels of serum TG. The combination of sequencing of DNA, PCR mapping, quantitative real-time PCR, inverse-PCR (I-PCR), multiplex PCR and bioinformatics analysis were used in order to detect TG mutations. We demonstrated that the three affected siblings are homozygous for a DNA inversion of 16,962bp in the TG gene associated with two deleted regions at both sides of the inversion limits.

Implementing on-line hemodiafiltration as a renal replacement therapy for ICU acute renal failure: a single-center report of feasibility, safety and hemodynamic tolerance over a seven-year period.

Background/aims: On-line hemodiafiltration (HDF) is not yet routinely used in ICUs given the potential risk of microbial contamination of dialysis fluids. We evaluated the safety and the tolerance of its use in our ICU.

Methods: A weekly measurement of bacterial growth (CFU/ml) and endotoxin level (endotoxin units/ml) was performed in dialysis fluids over a 7-year period.

Metabolic control in children with diabetes mellitus who are younger than 6 years at diagnosis: continuous subcutaneous insulin infusion as a first line treatment?

Objective: To assess long-term metabolic outcomes in children with diabetes mellitus that was diagnosed when they were <6 years old.

Study Design: A cohort of 66 children with diabetes mellitus that had a duration of at least 5 years and was diagnosed before they were 6 years old. Thirty-four children were treated at diagnosis with multiple daily subcutaneous insulin injections (MDI), and all these children, except 3, were switched to continuous subcutaneous insulin infusion (CSII; group A).

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. Recently, SLC2A10 mutations were identified in this condition. This gene encodes the glucose transporter GLUT10 and was previously suggested as a candidate gene for diabetes mellitus type 2.

Feasibility of nasal epithelial brushing for the study of airway epithelial functions in CF infants.

Background: For a better understanding of the early stages of cystic fibrosis (CF), it is of major interest to study respiratory epithelial cells obtained as early as possible. Although bronchoalveolar lavage has been proposed for this purpose, nasal brushing, which is a much less invasive technique, has seldom been used in CF infants. The aim of the present study was to examine in a few infants the feasibility of a nasal brushing technique for studies of airway epithelial functions in very young CF infants.

Radiation-induced bilateral coronary ostial stenosis in a 17-year-old patient.

Mediastinal irradiation can induce coronary artery disease characterized by the localization of lesions at the proximal segment of the arteries. We report the case of a 17-year-old patient who underwent a mediastinal irradiation for pulmonary sarcoma and developed 15 years later an asymptomatic ischemic cardiopathy. Bilateral coronary ostial stenosis was discovered by a transthoracic echography and coronary angiography showed isolated bilateral ostial stenosis.

Pure direct duplication (12)(q24.1-->q24.2) in a child with Marcus Gunn phenomenon and multiple congenital anomalies.

Partial trisomy of the region 12q24.1-->q24.2 is rare and usually associated with other rearrangements.

Renal and hormonal responses to isotonic saline infusion after 3 days' head-down tilt vs. supine and seated positions.

Aim: The study aimed to determine whether prolonged exposure to simulated microgravity produces a level of thoracic volume receptor loading similar to that seen in the upright position or immediately after lying down.

Methods: We used a cross-over design to compare responses to a saline infusion in eight healthy subjects during a 4-day, -6 degree head-down tilt (HDT) and in the acute seated and acute supine positions.

Results: The first 24 h of HDT were associated with greater urinary excretion of water and sodium (UV, UNaV) than seated and acute supine [cumulative UV, 3035 +/- 219, 2311 +/- 156 (P < 0.

[Cardiovascular complications of Kawasaki syndrome: results of a French multicenter study].

Patients And Methods: Between March 1, 1995 and February 29, 1996, a multicentric prospective study was conducted in France in order to analyze the cardiovascular complications in Kawasaki syndrome, and to describe the echocardiographic features and the outcome of coronary lesions. Forty-nine cases of Kawasaki syndrome were observed.

Results: There were 32 boys and 17 girls (sex ratio: 1:9).

[Pulmonary embolism in the child: diagnostic and therapeutic particularities].

Background: Pulmonary embolism in children is an overlooked pathology. Yet the first description dates back to the end of the 19th century and this specific pathology is not seldom observed. The main risk factors are trauma, surgery, and foreign bodies.