Search

Oculocutaneous albinism (OCA) is a group of rare, genetic disorders caused by absent/reduced melanin biosynthesis. The aim of this study was to explore the neurovisual, cognitive, adaptive, and behavioral profile of children affected by OCA, also evaluating any possible effect of the visual acuity deficit on the clinical profile and genotype–phenotype correlations. Eighteen children (9 males, mean age 84 months ± 41; range 18–181 months) with a molecular confirmed diagnosis of OCA were enrolled in the study. We collected data on clinical history, neurodevelopmental profile, neurological and neurovisual examination, and cognitive, adaptive, and emotional/behavioral functioning. A global neurodevelopmental impairment was detected in 56% of the children, without evolving into an intellectual disability. All the patients showed signs and symptoms of visual impairment. Low adaptive functioning was observed in 3 cases (17%). A risk for internalizing behavioral problems was documented in 6 cases (33%), for externalizing problems in 2 (11%), and for both in 5 (28%). Twelve children (67%) showed one or more autistic-like features. Correlation analyses revealed significant associations between the visual acuity level and performance intelligence quotient (p = 0.001), processing speed index (p = 0.021), Vineland total score (p = 0.020), Vineland communication (p = 0.020), and socialization (p = 0.037) domains. No significant correlations were found between genotype and phenotype.Conclusion: Children with OCA may present a global neurodevelopmental delay that seems to improve with age and emotional/behavioral difficulties, along with the well-known visual impairment. An early neuropsychiatric evaluation and habilitative training are recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties. What is Known:• Children with oculocutaneous albinism show dermatological and ophthalmological problems.• An early visual impairment may have negative implications on motor, emotional, and cognitive processes that would allow the child to organize his or her experiences. What is New:• In addition to a variable combination of ocular signs and symptoms, children with oculocutaneous albinism may present an early neurodevelopmental delay and emotional/behavioral difficulties.• An early visual treatment is recommended to improve vision-related performance, neurodevelopment, and any psychological difficulties.

Background Sustained fetal supraventricular tachycardia is a potentially life-threatening disorder and is usually treated by administering antiarrhythmia drugs to the mother, which can require at least 48-72 hours to achieve normal sinus rhythm. In neonates with supraventricular tachycardia, first-line treatment is stimulation of the vagus nerve to elicit the diving reflex, commonly by application of a cold pack to the face, with a high, albeit sometimes temporary, success rate. Case We describe a case of fetal supraventricular tachycardia at term treated successfully by eliciting the diving reflex with an ice pack to the maternal abdomen over the lower uterine segment. The neonate was given propranolol augmented with flecainide because of recurrent supraventricular tachycardia. He remained in a stable sinus rhythm without side effects 5 months later. Conclusions Cardioversion of fetal supraventricular tachycardia at term by eliciting the diving reflex could be offered to allow normal labor and vaginal delivery.

Objectives This study sought to assess procedural characteristics, early clinical outcome, and long-term complications after transcatheter closure of atrial septal defect (ASD) in children. Background Transcatheter closure has become the preferred strategy in most cases of isolated secundum ASD. However, reported experience in the pediatric population is limited. Methods A 1998 to 2016 retrospective multicenter study was performed in 9 French tertiary institutions. All children who had an attempt of percutaneous ASD closure with an Amplatzer Septal Occluder were included. Results In 1,326 children (39% males; median age, 9 years [0.7 to 18]; weight, 29 kg [3.6 to 92]), transcatheter ASD closure was performed. Median ASD size was 15 mm (3 to 41); 254 (19.1%) patients had a large ASD (≥20 mm/m2). Procedural success rate was 95.3% (95% confidence interval: 93.9% to 96.3%). No death was observed but periprocedural complications occurred in 24 patients (1.8%). After a median follow-up of 3.5 years (range 6 months to 18 years; 173 patients [13%] followed >10 years), delayed major complications were minimal (n = 12; 1.04%) including no death and/or cardiac erosion. Periprocedural and delayed complications rates were significantly higher in children ≤15 kg (5.2% vs. 1.5%; p = 0.007 and 3.1% vs. 0.7%; p Conclusions Transcatheter ASD closure using Amplatzer Septal Occluder is safe in children with a minimal rate of periprocedural complications and a favorable long-term outcome, especially with no death or cardiac erosion despite a substantial proportion of large defects. Children ≤15 kg and those with large ASDs had a greater risk of complications.

This study compared the risk of infective endocarditis (IE) after percutaneous pulmonary valve implantation (PPVI) with the Sapien and Melody valves.The incidence of IE after PPVI is estimated at 3% per year with the Melody valve. The Sapien valve is a more recently marketed valve used for PPVI.We retrospectively included consecutive patients who underwent PPVI at a single center between 2008 and 2016. IE was diagnosed using the modified DUKE criteria.PPVI was performed in 79 patients (Melody valve, 40.5%; Sapien valve, 59.5%). Median age was 24.9 years (range 18.1 to 34.6). IE occurred in 8 patients (10.1%) at a median of 1.8 years (minimum: 1.0; maximum: 5.6) after surgery. Causative organisms were methicillin-sensitive Staphylococcus aureus (n = 3), Staphylococcus epidermidis (n = 1), Streptococcus mitis (n = 1), Aerococcus viridans (n = 1), Corynebacterium striatum (n = 1), and Haemophilus influenzae (n = 1). All 8 cases occurred after Melody PPVI (25.0% vs. 0.0%). The incidence of IE was 5.7% (95% confidence interval: 2.9% to 11.4%) per person-year after Melody PPVI. The Kaplan-Meier cumulative incidence of IE with Melody PPVI was 24.0% (95% confidence interval: 12.2% to 43.9%) after 4 years and 30.1% (95% confidence interval: 15.8% to 52.5%) after 6 years, compared with 0.0% with the Sapien PPVI after 4 years (p 0.04 by log-rank test). There was a trend toward a higher incidence of IE in the first 20 patients with Melody PPVI (who received prophylactic antibiotics during the procedure only) and in patients who had percutaneous interventions, dental care, or noncardiac surgery after PPVI.IE after PPVI may be less common with the Sapien compared with the Melody valve.

Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). Our purpose was to detect mutations and genetic frequencies of the main causative genes, offering to albino patients an exhaustive diagnostic assessment within a multidisciplinary approach including ophthalmological, dermatological, audiological and genetic evaluations. We report 70 novel mutations and the frequencies of the major causative OCA genes that are as follows: TYR (44%), OCA2 (17%), TYRP1 (1%), SLC45A2 (7%) and SLC24A5 (

This study sought to assess procedural characteristics, early clinical outcome, and long-term complications after transcatheter closure of atrial septal defect (ASD) in children.Transcatheter closure has become the preferred strategy in most cases of isolated secundum ASD. However, reported experience in the pediatric population is limited.A 1998 to 2016 retrospective multicenter study was performed in 9 French tertiary institutions. All children who had an attempt of percutaneous ASD closure with an Amplatzer Septal Occluder were included.In 1,326 children (39% males; median age, 9 years [0.7 to 18]; weight, 29 kg [3.6 to 92]), transcatheter ASD closure was performed. Median ASD size was 15 mm (3 to 41); 254 (19.1%) patients had a large ASD (≥20 mm/mTranscatheter ASD closure using Amplatzer Septal Occluder is safe in children with a minimal rate of periprocedural complications and a favorable long-term outcome, especially with no death or cardiac erosion despite a substantial proportion of large defects. Children ≤15 kg and those with large ASDs had a greater risk of complications.

We report the case of a 78-year-old woman with severe aortic valve stenosis that was successfully treated with transcatheter aortic valve implantation, with initial good hemodynamic results and clinical improvement of the patient. After 3 weeks, her clinical condition worsened, with progressive heart failure. Transthoracic echocardiography revealed an iatrogenic large subaortic ventricular septal defect with important left-to right shunt (Qp/Qs 3:1). The patient underwent successful transcatheter closure of the ventricular septal defect with a 14-mm Amplatzer mVSD Occluder (AGA Medical, Plymouth, MN), resulting in dramatic clinical improvement.

SummaryA ‘stent’ is a tubular meshed endoprosthesis that has contributed to the development of interventional catheterization over the past 30years. In congenital heart diseases, stents have offered new solutions to the treatment of congenital vessel stenosis or postsurgical lesions, to maintain or close shunt patency, and to allow transcatheter valve replacement. First, stents were made of bare metal. Then, stent frameworks evolved to achieve a better compromise between radial strength and flexibility. However, almost all stents used currently in children have not been approved for vascular lesions in children and are therefore used ‘off-label’. Furthermore, the inability of stents to follow natural vessel growth still limits their use in low-weight children and infants. Recently, bioresorbable stents have been manufactured and may overcome this issue; they are made from materials that may dissolve or be absorbed in the body. In this review, we aim to describe the history of stent development, the technical characteristics of stents used currently, the clinical applications and results, and the latest technological developments and perspectives in paediatric and adult congenital cardiac catheterization.

Objectives Evaluate the incidence, diagnosis, and outcome of coronary compression (CC) during right-ventricular outflow tract interventions. Background The incidence, risk factors, diagnosis, and outcomes of CC during percutaneous pulmonary valve implantation are poorly defined. Methods One-hundred consecutive patients (May 2008 to January 2012) undergoing transcatheter right-ventricular outflow tract treatment in two institutions were studied. Results CC occurred in six patients (6%) with a right ventricular outflow conduit stenosis, at a median age of 24.5 (13–49) years. It involved the left main coronary artery in four and the right coronary artery originating from the left anterior descending coronary artery in two patients. Conduit types were homograft (n = 3), bioprosthesis (n = 2), and a pericardial patch (n = 1). Median diameter was 23 (17–24) mm at surgical implantation. CC was diagnosed through a selective coronary angiogram during balloon dilation of the conduit in the first three patients and through an aortic root angiogram for the three next cases because we recognized that proximal compression could be masked during coronary artery cannulation. It was suspected on pre-procedure imaging (magnetic resonance imaging and/or computed tomography) in three cases. Patients with abnormal coronary anatomy tend to be at increased risk of CC (P = 0.0504). One institution had a higher incidence of CC (P = 0.04). CC resolved after balloon deflation. No patient underwent conduit stenting. Four patients underwent surgical reconstruction of right ventricular outflow tract. Conclusions CC is accurately diagnosed during right-ventricular outflow tract interventions. We recommend an aortic root angiogram during dilation with a non-compliant balloon matching the diameter and length of the intended conduit implant. © 2014 Wiley Periodicals, Inc.

Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type II (OCA2) is one of the four commonly-recognized forms of albinism, and is determined by mutation in the OCA2 gene. In the present study, we investigated the molecular basis of OCA2 in two siblings and one unrelated patient. The mutational screening of the OCA2 gene identified two hitherto-unknown putative splicing mutations. The first one (c.1503+5G>A), identified in an Italian proband and her affected sibling, lies in the consensus sequence of the donor splice site of OCA2 intron 14 (IVS14+5G>A), in compound heterozygosity with a frameshift mutation, c.1450_1451insCTGCCCTGACA, which is predicted to determine the premature termination of the polypeptide chain (p.I484Tfs*19). In-silico prediction of the effect of the IVS14+5G>A mutation on splicing showed a score reduction for the mutant splice site and indicated the possible activation of a newly-created deep-intronic acceptor splice site. The second mutation is a synonymous transition (c.2139G>A, p.K713K) involving the last nucleotide of exon 20. This mutation was found in a young African albino patient in compound heterozygosity with a previously-reported OCA2 missense mutation (p.T404M). In-silico analysis predicted that the mutant c.2139G>A allele would result in the abolition of the splice donor site. The effects on splicing of these two novel mutations were investigated using an in-vitro hybrid-minigene approach that led to the demonstration of the causal role of the two mutations and to the identification of aberrant transcript variants.

Background Oculocutaneous Albinism (OCA) is a heterogeneous group of inherited diseases involving hair, skin and eyes. To date, six forms are recognized on the effects of different melanogenesis genes. OCA4 is caused by mutations in SLC45A2 showing a heterogeneous phenotype ranging from white hair, blue irides and nystagmus to brown/black hair, brown irides and no nystagmus. The high clinic variety often leads to misdiagnosis. Our aim is to contribute to OCA4 diagnosis defining SLC45A2 genetic variants in Italian patients with OCA without any TYR , OCA2 and TYRP1 gene defects. Materials and methods After the clinical diagnosis of OCA, all patients received genetic counseling and genetic test. Automatic sequencing of TYR , OCA2 , and TYRP1 genes was performed on DNA of 117 albino patients. Multiplex Ligation-dependent Probe Amplification (MLPA) was carried out on TYR and OCA2 genes to increase the mutation rate. SLC45A2 gene sequencing was then executed in the patients with a single mutation in one of the TYR , OCA2 , TYRP1 genes and in the patients, which resulted negative at the screening of these genes. Results SLC45A2 gene analysis was performed in 41 patients and gene alterations were found in 5 patients. Four previously reported SLC45A2 mutations were found: p.G100S, p.W202C, p.A511E and c.986delC, and three novel variants were identified: p.M265L, p.H94D, and c.1156+1G>A. All the alterations have been detected in the group of patients without mutations in the other OCA genes. Conclusions Three new variants were identified in OCA4 gene; the analysis allowed the classification of a patient previously misdiagnosed as OA1 because of skin and hair pigmentation presence. The molecular defects in SLC45A2 gene represent the 3.4% in this cohort of Italian patients, similar to other Caucasian populations; our data differ from those previously published by an Italian researcher group, obtained on a smaller cohort of patients.

Importance: Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, and in many cases a cause is not immediately clear. The broad phenotypic spectrum of secondary glaucoma, particularly in individuals with variants in FOXC1 or PITX2 genes associated with Axenfeld-Rieger syndrome, makes it more difficult to diagnose patients with milder phenotypes. These cases are occasionally classified and managed as primary congenital glaucoma. Objective: To investigate the prevalence of FOXC1 variants in participants with a suspected diagnosis of primary congenital glaucoma. Design, Setting, and Participants: Australian and Italian cohorts were recruited from January 1, 2007, through March 1, 2016. Australian individuals were recruited through the Australian and New Zealand Registry of Advanced Glaucoma and Italian individuals through the Genetic and Ophthalmology Unit of l'Azienda Socio-Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda in Milan, Italy. We performed exome sequencing, in combination with Sanger sequencing and multiplex ligation-dependent probe amplification, to detect variants of FOXC1 in individuals with a suspected diagnosis of primary congenital glaucoma established by their treating specialist. Data analysis was completed from June 2015 to November 2017. Main Outcome and Measures: Identification of single-nucleotide and copy number variants in FOXC1 , along with phenotypic characterization of the individuals who carried them. Results: A total of 131 individuals with a suspected diagnosis of primary congenital glaucoma were included. The mean (SD) age at recruitment in the Australian cohort was 24.3 (18.1) years; 37 of 84 Australian participants (44.0%) were female, and 71 of 84 (84.5%) were of European ancestry. The mean (SD) age at recruitment was 22.5 (18.4) years in the Italian cohort; 21 of 47 Italian participants (44.7%) were female, and 45 of 47 (95.7%) were of European ancestry. We observed rare, predicted deleterious FOXC1 variants in 8 of 131 participants (6.1%), or 8 of 166 participants (4.8%) when including those explained by variants in CYP1B1 . On reexamination or reinvestigation, all of these individuals had at least 1 detectable ocular and/or systemic feature associated with Axenfeld-Rieger syndrome. Conclusions and Relevance: These data highlight the genetic and phenotypic heterogeneity of childhood glaucoma and support the use of gene panels incorporating FOXC1 as a diagnostic aid, especially because clinical features of Axenfeld-Rieger syndrome can be subtle. Further replication of these results will be needed to support the future use of such panels.

Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?

To uncover underlying mutations in a cohort of Italian patients with aniridia, a rare congenital panocular condition with an incidence ranging from 1:64,000 to 1:100,000. The disease may be found isolated or in association with other syndromes characterized by partial or complete absence of the iris and iris hypoplasia.We analyzed the PAX6 gene in 11 patients with aniridia fulfilling the following inclusion criteria: partial or complete absence of the iris and age18 years at the time of diagnosis. DNA sequence analysis was integrated with Multiple Ligation Probe Assay (MLPA) analysis.We identified seven PAX6 mutations, including four novel ones. The majority of mutations lie in the DNA-binding domain and all produce a truncated protein. All tested patients did not have WT1 gene deletions thus excluding the WAGR syndrome. We present the clinical findings in the four cases harboring novel mutations. We were unable to identify mutations in four cases with complete aniridia thus indicating that other gene/s could be involved in the disease.It is important to establish the molecular diagnosis early to avoid repeated and long-term screening for Wilms tumor. Our work further emphasizes that a wide range of ocular phenotypes are associated with loss of function PAX6 mutations. In addition to the possibility of stochastic variations, other genetic variations could play a role as modifier genes, thus giving rise to the observed different ocular phenotypes.

Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated intraocular pressure (IOP); however, the genes and molecular mechanisms involved in the etiology of these defects have not been fully characterized. Previously, we observed PCG-like phenotypes in transgenic mice that lack functional angiopoietin-TEK signaling. Herein, we identified rare TEK variants in 10 of 189 unrelated PCG families and demonstrated that each mutation results in haploinsufficiency due to protein loss of function. Multiple cellular mechanisms were responsible for the loss of protein function resulting from individual TEK variants, including an absence of normal protein production, protein aggregate formation, enhanced proteasomal degradation, altered subcellular localization, and reduced responsiveness to ligand stimulation. Further, in mice, hemizygosity for Tek led to the formation of severely hypomorphic Schlemm’s canal and trabecular meshwork, as well as elevated IOP, demonstrating that anterior chamber vascular development is sensitive to Tek gene dosage and the resulting decrease in angiopoietin-TEK signaling. Collectively, these results identify TEK mutations in patients with PCG that likely underlie disease and are transmitted in an autosomal dominant pattern with variable expressivity. Published version

Purpose Efficacy of Sapien XT valve has been reported for percutaneous pulmonary valve implantation (PPVI). Implantation is complex given the rigidity and the of the Novaflex® delivery system. Sapien 3 valve is the latest evolution of Edwards valves with a more flexible Commander® delivery system. We report our results of off-label use of Sapien 3 for PPVI. Methods Between September 2016 and April 2017, 16 procedures were performed with the Sapien 3 and compared to 26 procedures performed with the Sapien XT between January 2015 and July 2016. Results Sapien 3 were implanted in 16 patients [26 years old (23–38)]. Conduit were native patched valves (n = 6), bioprosthesis (n = 4), tube (n = 4), homograft (n = 1) and Melody valve (n = 1). All patients had pulmonary prestenting (Andrastent XXL, n = 12; eV3 LDmax, n = 4). Valve implantation was performed during a second procedure in 5 cases. Valve diameters were 23 (n = 3), 26 (n = 4) and 29 mm (n = 9). Valves were successfully implanted in all cases. After procedure, one patient had minor pulmonary valve regurgitation. Peak-to-peak gradient across the valves was ≤ 15 mmHg in 14 cases. Two patients had minor valve mismatch. Nor valve dysfunction nor infective endocarditis was reported during follow-up. Procedure duration, fluoroscopy time, dose-length product and kerma were lower with Sapien 3 compared to Sapien XT procedures (0.002, 0.01, 0.006, and 0.007 respectively). Conclusion Sapien 3 valve implantation in pulmonary position with the Commander delivery system is efficient and faster. However, the lack of valve covering onto the delivery system remains an issue.

OTX2 mutations are reported in patients with eye maldevelopment and in some cases with brain or pituitary abnormalities. We describe a child carrying a novel OTX2 heterozygous mutation. She presented microphthalmia, absence of retinal vascularization, vitreal spots and optic nerve hypoplasia in the right eye and mild macular dystrophy in the left eye. Midline brain structures and cerebral parenchyma were normal, except for the ectopic posterior pituitary gland. OTX2 sequencing showed a heterozygous c.402del mutation. Most of OTX2 mutations are nonsense or frameshift introducing a premature termination codon and resulting in a truncated protein. More rarely missense mutations occur. Our novel OTX2 mutation (c.402del) is a frameshift mutation (p.S135Lfs*43), never reported before, causing a premature codon stop 43 amino-acids downstream, which is predicted to generate a premature truncation. The mutation was associated with microphthalmia and ectopic posterior pituitary.

SummaryBackgroundMany stents are used “off-label” during the management of congenital heart diseases (CHD).AimsTo describe indications for, results of, and adverse events associated with stenting in CHD in current practice.MethodsParticipation in this study was proposed to all catheterization laboratories that specialize in CHD in France (M3C network). All paediatric and adult CHD cases with stent implantation in 2013 were included retrospectively.ResultsOverall, 207 stents were implanted in 151 patients across 11 centres. Median age was 13.7 years (range, 5 days to 70.1 years). Main procedure indications were branch pulmonary artery angioplasty (n=46, 29.1%), aortic (re)coarctation stenting (n=43, 27.2%), percutaneous pulmonary valve implantation (n=32, 20.2%) and ductus arteriosus stenting (n=14, 8.9%). The main stents implanted were the CP Stent™ (n=61, 29.5%), the Max™ LD stent (n=43, 20.8%), the Valeo® stent (n=28, 13.5%) and valved stents (n=30, 14.5%). Procedures were considered successful in 96.8% of cases (95% confidence interval [CI] 92.8–99.0%). Adverse events were observed in 23 procedures (14.7%, 95% CI 9.5–21.0%). Ductus arteriosus stenting (odds ratio 12.4, 95% CI 2.0–77.5; P

Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. OCA type IV (OCA4) is one of the four commonly recognized forms of albinism, and is determined by mutation in the SLC45A2 gene. Here, we investigated the genetic basis of OCA4 in an Italian child. The mutational screening of the SLC45A2 gene identified two novel potentially pathogenic splicing mutations: a synonymous transition (c.888G>A) involving the last nucleotide of exon 3 and a single-nucleotide insertion (c.1156+2dupT) within the consensus sequence of the donor splice site of intron 5. As computer-assisted analysis for mutant splice-site prediction was not conclusive, we investigated the effects on pre-mRNA splicing of these two variants by using an in vitro minigene approach. Production of mutant transcripts in HeLa cells demonstrated that both mutations cause the almost complete abolishment of the physiologic donor splice site, with the concomitant unmasking of cryptic donor splice sites. To our knowledge, this work represents the first in-depth molecular characterization of splicing defects in a OCA4 patient.

Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and PAX6 genes. In syndromic patients the presence of genome imbalances through array CGH was also investigated. No mutations were found for OTX2 and PAX6 genes. Three causative SOX2 mutations were found in subjects with syndromic A. In a subject with syndromic signs and monolateral M, two de novo 6.26 Mb and 1.37 Mb deletions in 4q13.2q13.3 have been identified. A SOX2 missense (p.Ala161Ser) mutation was found in 1 out of 39 a subject with non-syndromic monolateral M. Alanine at position 161 is conserved along phylogeny and the p.Ala161Ser mutation is estimated pathogenic by in silico analysis. However, this mutation was also present in the unaffected patient's daughter.

Coronary artery compression is a rare and potentially fatal complication after percutaneous pulmonary valve implantation. We report on a case of an acute antero-septal non-ST myocardial infarction secondary to the partial laceration of the conduit and the creation of a thrombus giving an extrinsic compression of left anterior descendent coronary artery after Melody valve implantation.

Stents have contributed to the development of the interventional catheterization of congenital heart diseases (CHD). The aim of this study was to describe current indications and results. Methods Participation to this study was proposed to all catheterization laboratories specialized in CHD in France (M3C network). All cases with stents implantation in 2013 in pediatric and adult CHD were retrospectively included. Adverse events were assessed using the Bergersen classification. Risk markers were searched using univariate and multivariate analysis. Results 174 stents were implanted in 127 patients. Patients were aged 15.7±15.1 year old (min 5 day-old - max 70 year-old). Main indications were transcatheter pulmonary valve replacement (prestenting and revalvulation; n=29 patients, 23.0%), pulmonary artery branches angioplasty (n=34, 27.0%), aortic coarctation or recoarctation stenting (n=37, 29.4%) and ductus arteriosus stenting (n=11, 8.7%). 18 Patients (14.3%) were under one-year old and 35 (27.8%) were over 18 year-old. Main pathologies were tetralogy of Fallot and variants (ACC-CHD 8.3, n=45, 35.7%), and aortic coarctation (ACCCHD 9.2, n=36, 28.6%). More than one stent was implanted in 32 procedures (24.4%, max. 5 stents). Main stents implanted were the CP stent (33.0%), EV3 LD max (22.0%), Valeo (16.2%) and valved stents (15.0%). 98.5% Procedures were considered as successful. Adverse events were observed in 16.7% procedures (stent related in 12.1% procedures). Serious adverse events were observed in 12.9%. After uni- and multivariate adjustment, only procedure type was related to the risk of total adverse events but not to stent related adverse events. Age, weight, center, type of stents, genetic disorder and type of CHD were not significantly related to the risk of adverse events. Conclusion Stents are used in various CHD catheterization procedures, from infancy to adult age. Adverse events rate is significant and seems related to the type of procedure.

Evaluate the incidence, diagnosis, and outcome of coronary compression (CC) during right-ventricular outflow tract interventions.The incidence, risk factors, diagnosis, and outcomes of CC during percutaneous pulmonary valve implantation are poorly defined.One-hundred consecutive patients (May 2008 to January 2012) undergoing transcatheter right-ventricular outflow tract treatment in two institutions were studied.CC occurred in six patients (6%) with a right ventricular outflow conduit stenosis, at a median age of 24.5 (13-49) years. It involved the left main coronary artery in four and the right coronary artery originating from the left anterior descending coronary artery in two patients. Conduit types were homograft (n = 3), bioprosthesis (n = 2), and a pericardial patch (n = 1). Median diameter was 23 (17-24) mm at surgical implantation. CC was diagnosed through a selective coronary angiogram during balloon dilation of the conduit in the first three patients and through an aortic root angiogram for the three next cases because we recognized that proximal compression could be masked during coronary artery cannulation. It was suspected on pre-procedure imaging (magnetic resonance imaging and/or computed tomography) in three cases. Patients with abnormal coronary anatomy tend to be at increased risk of CC (P = 0.0504). One institution had a higher incidence of CC (P = 0.04). CC resolved after balloon deflation. No patient underwent conduit stenting. Four patients underwent surgical reconstruction of right ventricular outflow tract.CC is accurately diagnosed during right-ventricular outflow tract interventions. We recommend an aortic root angiogram during dilation with a non-compliant balloon matching the diameter and length of the intended conduit implant.

Stents have contributed to the development of the interventional catheterization for congenital heart diseases (CHD). The aim of this study was to describe indications, results and adverse events in current practice. Methods The participation to this study was proposed to all catheterization laboratories specialized in CHD in France (M3C network). All cases with stents implantation in 2013 in pediatric and adult CHD were retrospectively included. Adverse events were assessed using the Bergersen classification. Results 174 stents were implanted during 132 procedures in 127 patients by 6 main operators in 9 centers. Patients were aged 15.7 ± 15.1 years old (min 5 day-old - max 70 years old). Sixteen types of procedures were identified. Main indications were transcatheter pulmonary valve replacement (29 patients, 23.0%), pulmonary artery branches angioplasty (34 patients, 27.0%), aortic (re)coarctation stenting (37 patients, 29.4%) and ductus arteriosus stenting (11 patients, 8.7%). 18 patients (14.3%) were under one y.o and 35 (27.8%) were over 18 y.o. Main pathologies were tetralogy of Fallot and variants (ACC-CHD 8.3, n = 45, 35.7%), and aortic coarctation (ACC-CHD 9.2, n = 36, 28.6%). More than 1 stent was implanted in 32 procedures (24.4%, max. 5 stents). Main stents implanted were the CP stent (33.0%), EV3 LD max (22.0%), Valeo (16.2%) and valved stents (15.0%). 98.5% procedures were considered as successful. Serious adverse events were observed in 12.9%. After multivariate adjustment, only procedure type was related to the risk of total adverse events (OR: 3.0, 95%CI 1.1–7.9) but not to stent related adverse events. Age, weight, center, operator, type of stents, stent diameter, genetic disorder and type of CHD were not significantly related to the risk of adverse events. Conclusion Stents are used in various CHD catheterization procedures, from infancy to adult age. Adverse events rate is significant and seems related to the type of procedure.

To compare, in a prospective, randomized study, implantation and pregnancy rates between day 2 and day 3 embryo transfer intracytoplasmic sperm injection (ICSI).A total of 106 patients undergoing ICSI cycles who had at least 1 embryo suitable for cryopreservation were prospectively randomized into 2 groups: group I, embryo transfer performed on day 2; group II, embryo transfer performed on day 3.Patient ages did not differ (P = .58) between groups I (33.1 +/- 4.5) and II (32.7 +/- 4.4). The number of oocytes retrieved from group I (13.7 +/- 5.2) was similar (P = .82) to that retrieved from group II (13.7 +/- 5.4). In addition, there was no difference (P = .30) in the number of oocytes retrieved at metaphase II between groups I (10.6 +/- 4.4) and II (9.7 +/- 4.2). Fertilization and cleavage rates were also similar (P = .58 and P = .50, respectively) between groups I (78.2 +/- 14.0% and 98.7 +/- 4.3%) and II (76.2 +/- 14.8% and 99.8 +/- 1.24%, respectively). The total number of embryos and of embryos transferred were similar (P = .22 and P = .36; respectively) for groups I (8.0 +/- 3.0, 2.8 +/- 0.7) and II (7.16 +/- 3.2, 2.6 +/- 0.8). Pregnancy rates per transfer, implantation rates and abortion rates were also similar for groups I (43.4%, 20.8% and 8.7%, respectively) and II (41.5%, 24.1% and 23%, respectively) (P = 1.0, P = .57 and P = .24, respectively).The results suggest that extending the embryo culture period from 2 to 3 days for patients who had at least 1 embryo left for cryopreservation had no effect on implantation, pregnancy or abortion rates in an ICSI program.

The infertility can lead to various emotional changes (anxiety, depression, somatization, aggressiveness, etc.). The objective of the present study was to develop a psychological evaluation test (PET) in an attempt to identify couples requiring psychological support when they face the problem of infertility.A total of 251 infertile couples were submitted to the PET of the Center for Human Reproduction, "Sinhá Junqueira" Maternity Foundation. The causes of infertility were male-related in 45% of cases, female-related in 48%, and both male- and female-related in 7%. Infertility was primary in 74% of cases and secondary in 26%. The mean age of the women was 34 +/- 4.2 years and the mean age of the men was 36.8 +/- 6.5 years. The PET of the infertile couples was evaluated using a questionnaire with 15 questions selected in order to detect emotional reactions. The responses were assigned four grades with respect to frequency (1 = never or rarely; 2 = sometimes; 3 = many times, and 4 = always). The sum of the responses corresponded to a PET score ranging from 15 to 60 points. A PET score of30 points was defined as cut-off point for necessity of specialized psychological evaluation. Data were analyzed statistically by the Student's t test and the Mann-Whitney and Fisher tests, with the level of significance set at 5%. The reliability of the questionnaires was determined on the basis of the alpha coefficient of Cronbach.The mean PET score for women (27 +/- 8) was significantly higher (p0.01, Mann-Whitney test) than the PET score for men (22 +/- 7). The alpha coefficient of Cronbach was 0.88, and was identical for the female and male questionnaires.The data demonstrate that one of the characteristics of Brazilian infertile couples is that women are habitually more affected by the situation of infertility than men. The PET is a simple and efficient tool for the identification of women and/or men requiring psychological support due to infertility. The team of the Center for Human Reproduction (employees, biologists, nurses, doctors etc.) has started to use the information provided by the PET in the daily routine, and all patients are informed and counseled about the factors generating emotional changes in infertility. Advice is provided (practicing sports, traveling, activating personal projects etc.) in order to help combat distress. A specialized psychological evaluation was indicated in selected cases (PET score30 points).

The objective of the present study was to evaluate an ultrasonographic uterine scoring system as a method for the prognosis of embryo implantation in patients submitted to ICSI.A total of 562 patients submitted to an ICSI program were prospectively evaluated on the day of hCG administration in terms of the following ultrasonographic uterine parameters: A. Endometrial thickness (7.0 mm = 0; 7 a 14 mm = 3;14 mm = ); B. Endometrial layering (three lines = 2; absence of three lines = 0); C. Myometrial contractions in 2 min (3 = 0;or = 3 = 3); D. Uterine artery Doppler flow (3 = 0; 2.2 a 3 = 22;or = 2 .19 = 3); E. Endometrial power Doppler (The endometrium was divided into four equal quadrants and classified as grade I = 1; II = 2; III = 3; IV = 4, according to the visualization of the power Doppler in the quadrants). The colour Doppler signal was considered to be positive when it reached at least the basal layer of the endometrium; F. Myometrial power Doppler (absent = 0 weakly present 2; strongly present = 3); G. Myometrial echogenicity (homogeneous = 2; inhomogeneous = 0). The patients were divided into 4 groups according to total score: Group I, score10: Group II, score 10-14, Group III, score 15-17 and Group IV, score 18-20.The uterine parameters using an ultrasonographic scoring system are inversely correlated with patient age (p0.0001). The number of days of stimulation with FSH did not differ (p = 0.10) between groups. The number of follicles measuring16 mm was different (p = 0.01) between groups. The number of metaphase II oocytes also did not differ significantly between groups (p = 0.45). The fertilization rate was also similar (p = 0.10) for all groups. The number of transferred embryos was different between groups (p = 0.02). The rate of embryo implantation did not differ (p = 0.60) between groups. Finally, the pregnancy rates did not differ significantly (p = 0.93) between groups.The ultrasonographic evaluation of uterine parameters on the day of hCG administration using a scoring system is inversely correlated with patient age. In the present study, the use of this ultrasonographic score method could not identify a population with greater uterine receptivity.