Long-term outcomes of prophylaxis with a recombinant factor VIII Fc or recombinant factor IX Fc in patients with hemophilia previously treated on demand.

Background: Prophylactic factor replacement therapy is recommended over on-demand treatment for preserving long-term joint health in hemophilia. Extended half-life products, including efmoroctocog alfa/eftrenonacog alfa (recombinant factor VIII [FVIII]/FIX Fc fusion proteins; herein rFVIIIFc/rFIXFc), have the potential to reduce treatment burden with less frequent administration and improve bleed prevention.

Objectives: We report post hoc data from patients with hemophilia A or B (HA/HB) who switched from prestudy on-demand FVIII/FIX to rFVIIIFc/rFIXFc prophylaxis at the start of A-LONG/B-LONG or start of/during ASPIRE/B-YOND phase 3 studies.

Two-Year Outcomes of Valoctocogene Roxaparvovec Therapy for Hemophilia A.

Background: Valoctocogene roxaparvovec delivers a B-domain-deleted factor VIII coding sequence with an adeno-associated virus vector to prevent bleeding in persons with severe hemophilia A. The findings of a phase 3 study of the efficacy and safety of valoctocogene roxaparvovec therapy evaluated after 52 weeks in men with severe hemophilia A have been published previously.

Methods: We conducted an open-label, single-group, multicenter, phase 3 trial in which 134 men with severe hemophilia A who were receiving factor VIII prophylaxis received a single infusion of 6×10 vector genomes of valoctocogene roxaparvovec per kilogram of body weight.

Relevance of Fetal Brain Magnetic Resonance Imaging Compared to Ultrasound for Detecting Cerebral Anomalies in Fetuses with Cleft Lip and/or Palate: A Cohort Study.

Introduction: Relevance of fetal brain magnetic resonance imaging (MRI) in cases of cleft lip and/or palate (CL/P) is still discussed to date. The aim of our study was to review the contribution of fetal brain MRI for detecting cerebral anomalies in cases of CL/P comparing antenatal data with neonatal outcomes.

Methods: A retrospective multicenter study was conducted from January 2010 to October 2020 in two multidisciplinary prenatal diagnosis centers among women with a fetal ultrasound (US) diagnosis of CL/P.

Laminopathies' Treatments Systematic Review: A Contribution Towards a 'Treatabolome'.

Background: Variants in the LMNA gene, encoding lamins A/C, are responsible for a growing number of diseases, all of which complying with the definition of rare diseases. LMNA-related disorders have a varied phenotypic expression with more than 15 syndromes described, belonging to five phenotypic groups: Muscular Dystrophies, Neuropathies, Cardiomyopathies, Lipodystrophies and Progeroid Syndromes. Overlapping phenotypes are also reported.

Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France.

Congenital heart diseases (CHDs) are the most common congenital malformations. The objective of our study was to evaluate the prenatal screening accuracy of congenital heart disease (CHD) in Southern France and to evaluate the impact of a prenatal diagnosis on pregnancies outcomes and neonatal outcomes. We performed a bicentric, retrospective observational study in the southern region over 4 years was conducted between 1 January 2014 and 31 December 2017.

Long-term safety and sustained efficacy for up to 5 years of treatment with recombinant factor IX Fc fusion protein in subjects with haemophilia B: Results from the B-YOND extension study.

Introduction: Recombinant factor IX Fc fusion protein (rFIXFc) has demonstrated efficacy for treatment of haemophilia B in the Phase 3 B-LONG and Kids B-LONG studies. However, long-term rFIXFc safety and efficacy data have not yet been reported.

Aim: To report long-term rFIXFc safety and efficacy in subjects with haemophilia B.

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of diseases, resembling Charcot-Marie-Tooth syndromes, but characterized by an exclusive involvement of the motor part of the peripheral nervous system. Here, we describe two new compound heterozygous mutations in VRK1, the vaccinia-related kinase 1 gene, in two siblings from a Lebanese family, affected with dHMN associated with upper motor neurons (MNs) signs. The mutations lead to severely reduced levels of VRK1 by impairing its stability, and to a shift of nuclear VRK1 to cytoplasm.

Early to mid-term results after total cavopulmonary connection performed in the second decade of life.

Objectives: Total cavopulmonary connection (TCPC) performed in the second decade of life has rarely been studied. Thus, we investigated (bicentric study) early and late morbidity and mortality following completion of TCPC in these patients.

Methods: From January 1999 to June 2014, 63 patients (14.

Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.

Background And Aims: Dysferlinopathies are a group of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene. This study presents clinical features and the mutational spectrum in the largest cohort of Chinese patients analyzed to date.

Patients And Methods: A total of 36 unrelated Chinese patients with diagnostic suspicion of dysferlinopathy were clinically and genetically characterized.

Real-world outcomes with recombinant factor VIIa treatment of acute bleeds in haemophilia patients with inhibitors: results from the international ONE registry.

The ONE Registry (OR) was an international prospective observational study of on-demand recombinant factor VIIa (rFVIIa) treatment for mild to moderate bleeds in haemophilia A/B patients with inhibitors. To describe real-world use of single and multi dose rFVIIa and to compare outcomes, including effectiveness, safety, quality of life and treatment satisfaction associated with treatment. Baseline data included demographics, treatment, medical and bleed history and patient/caregiver-reported outcomes regarding bleeds.

Transcaval correction of partial anomalous pulmonary venous drainage into the superior vena cava.

Background: The ideal technique for addressing partial anomalous pulmonary venous drainage into the superior vena cava (SVC), with or without sinus venosus atrial septal defect (ASD), is debated. The risk of sinus node dysfunction, systemic, or pulmonary venous channels obstruction has led to different techniques being developed. We present our experience with 45 patients operated on using a vertical transcaval approach, without atrial or cavoatrial junction incision.

Right ventricular outflow repair: the aortic autograft technique procures the best late results in the transposition complex.

Objective: After treatment of transposition of the great arteries (TGA), ventricular septal defect (VSD), pulmonary stenosis, or atresia by various surgical procedures, two main problems led to reoperation: RV-PA conduit or connection stenosis and subaortic stenosis. We report here our mid- and long-term experience of a technique described in 1997 using a segment of aortic autograft as a RV-PA conduit.

Methods: Between 1993 and 2005, 25 patients with TGA, VSD, PS, or atresia were corrected with a technique using an intra-ventricular rerouting with conal septum resection (as in reconstruction-endo-ventriculaire (REV)) and interposition of tubular segment of autograft aorta between RV and PA without Lecompte maneuver (as in Rastelli), using in some cases an additional monocusp patch.

A prospective, observational, post-approval registry of inhibitor patients treated with multiple or single doses of recombinant activated factor VII.

In March 2007, the European Medicines Agency (EMEA) approved the use of single-dose recombinant activated factor VII (rFVIIa; NovoSeven, Novo Nordisk, Bagsvaerd, Denmark) 270 microg/kg for the treatment of mild-to-moderate bleeding episodes in patients with hemophilia A or B with inhibitors. The prospective, observational ONE Registry was recently established to describe "real world" use of the standard multiple-dose (3 x 90 microg/kg) and new single-dose (270 microg/kg) regimens, and to compare their safety, effectiveness, and effects on both quality of life and patient satisfaction with treatment. Enrollment started at the beginning of 2008, with a planned recruitment period of 18 months, and it is expected that approximately 100 patients will be enrolled from up to 30 European hemophilia centers.

Absence of rapid deployment extracorporeal membrane oxygenation (ECMO) team does not preclude resuscitation ecmo in pediatric cardiac patients with good results.

We evaluated the results of using extracorporeal membrane oxygenation (ECMO) as resuscitation for cardiac patients undergoing cardiopulmonary resuscitation (CPR) in our setting where neither perfusionists nor surgeons are always on site, and no circuit may be ready. Between 2003 and 2006, we used ECMO for all cardiac patients who underwent cardiac arrest in the pediatric intensive care unit (PICU) or Cath Laboratory. We reviewed retrospectively 14 consecutive files (15 episodes).

Postoperative extracorporeal life support in pediatric cardiac surgery: recent results.

We retrospectively reviewed the files of 19 extracorporeal life support (ECLS) applications performed after cardiac surgery in 15 patients from January 2002 to December 2004. We placed 16 arteriovenous ECLS applications with oxygenator, 2 venovenous ECLS applications with oxygenator, and 1 biventricular ECLS application without oxygenator (graft dysfunction after heart transplant). Mean age was 4.

C-peptide stimulates Na+,K+-ATPase activity via PKC alpha in rat medullary thick ascending limb.

Aims/hypothesis: C-peptide, the cleavage product of proinsulin processing exerts physiological effects including stimulation of Na(+),K(+)-ATPase in erythrocytes and renal proximal tubules. This study was undertaken to assess the physiological effects of connecting peptide on Na(+),K(+)-ATPase activity in the medullary thick ascending limb of Henle's loop.

Methods: Na(+),K(+)-ATPase activity was measured as the ouabain-sensitive generation of (32)Pi from gamma[(32)P]-ATP and (86)Rb uptake on isolated rat medullary thick ascending limbs.

Nontuberculous spondylodiscitis in children.

Forty-two children with nontuberculous spondylodiscitis treated between 1966 and 1997 were reviewed, and the clinical, paraclinical, and therapeutic results are presented. The study shows the difficulties of diagnosis and understanding the pathophysiology of the disease. Additional information is provided by new imaging techniques, disc aspiration, and biopsy.

Pulmonary atresia with ventricular septal defect, extremely hypoplastic pulmonary arteries, major aorto-pulmonary collaterals.

Objective: Among 63 patients with pulmonary atresia and ventricular septal defect (VSD), 10 patients with extreme hypoplasia of the pulmonary arteries (PA) (mean Nakata index 20.6 mm(2)/m(2)), but with confluent arteries and a diminutive main PA, and major aorto-pulmonary collaterals (MAPCAS), have been submitted to a 'rehabilitation' of the PA with several stages: (i) connection between RV and PAs, (ii) interventional catheterizations, (iii) complete correction with or without unifocalisation. We report here the results of this approach.

Systemic embolism: a serious complication after cardiac transplantation avoidable by bicaval technique.

Objective: Systemic embolism is a serious complication after classical orthotopic transplantation, presumably originating from enlarged left atrium. We specifically studied this problem after classical and modified bicaval transplantation.

Methods: Between December 1985 and March 1999 we consecutively performed 72 classical and 106 modified heart transplantation.